Article
instance of
subclass of
description
Disease Ontology ID
MeSH tree code
Commons category
image
1,4-phenylenediamine allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger 1,4-phenylenediamine
DOID:0040058
1-chloro-2,4-dinitrobenzene allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger 1-chloro-2,4-dinitrobenzene
DOID:0040069
17q11 microdeletion syndrome class of disease chromosomal deletion syndrome partial deletion of the long arm of chromosome 17 Human disease
DOID:0060403
2,4-dinitrophenyl allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger 2,4-dinitrophenyl group
DOID:0040079
2-hydroxyglutaric aciduria
class of disease amino acid metabolic disorder neurometabolic disease cerebral organic aciduria rare genetic epilepsy amino acid or protein metabolism disease with epilepsy amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage
DOID:0050573
2q37 deletion syndrome
class of disease chromosome abnormality intellectual disability chromosome 2q deletion chromosomal deletion syndrome
human disease
DOID:0111704
3-methylcrotonyl-CoA carboxylase 1 deficiency class of disease 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency that has material basis in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27
DOID:0080579
3-methylcrotonyl-CoA carboxylase 2 deficiency class of disease 3-methylcrotonyl-CoA carboxylase deficiency
human disease
DOID:0080580
3-methylglutaconic aciduria 7A class of disease
human disease
DOID:0081133
3-methylglutaconic aciduria type 1 class of disease 3-methylglutaconic aciduria genetic disease autosomal recessive disease 3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22
DOID:0110002
3-methylglutaconic aciduria type 4 class of disease 3-methylglutaconic aciduria
3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid
DOID:0110006
3-methylglutaconic aciduria type IX class of disease 3-methylglutaconic aciduria genetic disease autosomal recessive disease 3-methylglutaconic aciduria that has material basis in homozygous mutation in the TIMM50 gene on chromosome 19q13
DOID:0070002
3MC syndrome 2 class of disease 3MC syndrome 3MC syndrome that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25
DOID:0060576
3MC syndrome 3
class of disease 3MC syndrome 3MC congenital syndrome associated with the COLEC10 gene on chromosome 8q24
DOID:0060577
4-tert-butylphenol allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger 4-tert-butylphenol
DOID:0040068
4-vinylcyclohexene dioxide respiratory allergy class of disease respiratory allergy respiratory allergy that has allergic trigger 4-vinylcyclohexene dioxide
DOID:0040063
46 XX gonadal dysgenesis
class of disease gonadal dysgenesis
gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female
DOID:14450
C12.706.316.064.249 C12.706.316.309.193 C13.351.875.253.064.249 C13.351.875.253.309.193 C16.131.939.316.064.249 C16.131.939.316.309.193 C19.391.119.064.249 C19.391.119.309.193
46,XX sex reversal 1 class of disease XX male syndrome X-linked dominant disease human disease
DOID:0111761
46,XX sex reversal 2 class of disease autosomal dominant disease XX male syndrome
human disease
DOID:0111763
46,XX sex reversal 3 class of disease XX male syndrome X-linked dominant disease human disease
DOID:0111762
46,XX sex reversal 4 class of disease autosomal dominant disease XX male syndrome
human disease
DOID:0111764
46,XY sex reversal 1 class of disease Y-linked disease XY gonadal dysgenesis
human disease
DOID:0111778
46,XY sex reversal 10 class of disease hereditary lymphedema familial hypertrophic cardiomyopathy 46,XY partial gonadal dysgenesis XY gonadal dysgenesis autosomal dominant disease chromosomal deletion syndrome
human disease
DOID:0111775
46,XY sex reversal 2 class of disease XY gonadal dysgenesis X-linked disease human disease
DOID:0111777
46,XY sex reversal 3 class of disease autosomal dominant disease XY gonadal dysgenesis
human disease
DOID:0111772
46,XY sex reversal 4 class of disease XY gonadal dysgenesis chromosomal deletion syndrome
human disease
DOID:0111771
46,XY sex reversal 5 class of disease XY gonadal dysgenesis autosomal recessive disease human disease
DOID:0111776
46,XY sex reversal 6 class of disease XY gonadal dysgenesis autosomal dominant disease human disease
DOID:0111769
46,XY sex reversal 7 class of disease autosomal recessive disease XY gonadal dysgenesis
human disease
DOID:0111774
46,XY sex reversal 8 class of disease autosomal recessive disease XY gonadal dysgenesis
human disease
DOID:0111773
46,XY sex reversal 9 class of disease autosomal dominant disease XY gonadal dysgenesis
human disease
DOID:0111770
ABCD syndrome
class of disease autosomal recessive disease Waardenburg-Shah syndrome syndrome
Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)
DOID:0050600
ABri amyloidosis class of disease cerebral amyloid angiopathy ITM2B amyloidosis genetic disease autosomal dominant disease human disease
DOID:0070029
ACTH-independent macronodular adrenal hyperplasia 1 class of disease Cushing syndrome due to macronodular adrenal hyperplasia human disease
DOID:0111623
ACTH-independent macronodular adrenal hyperplasia 2 class of disease Cushing syndrome due to macronodular adrenal hyperplasia human disease
DOID:0111624
AMED syndrome class of disease syndrome autosomal recessive disease digenic disease human disease
DOID:0080952
APP-related cerebral amyloid angiopathy class of disease cerebral amyloid angiopathy autosomal dominant disease A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.
DOID:0070028
Aagenaes syndrome
class of disease syndrome primary lymphedema with associated anomalies genetic vascular anomaly rare genetic hepatic disease syndromic lymphedema rare genetic immune disease disease
syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts
DOID:6691
Aagenaes syndrome
Achard syndrome
class of disease syndrome genetic disease
syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet
DOID:6686
Achenbach syndrome
class of disease skin disease
skin condition characterized by spontaneous focal hemorrhage into the palm or the volar surface of a finger
DOID:6687
Paroxysmal hand hematoma
Acinetobacter infectious disease class of disease gram-negative bacterial infection opportunistic bacterial infectious disease Human disease
DOID:3091
C01.150.252.400.560.022
Adie syndrome
class of disease syndrome abnormal pupillary function disease
neurological disorder characterized by a tonically dilated pupil
DOID:11549
C10.177.045 C10.292.562.700.250 C11.590.436.200 C11.710.800.180
Adie syndrome
African histoplasmosis
class of disease histoplasmosis disease
Human disease
DOID:11315
African iron overload
class of disease iron overload HFE hereditary haemochromatosis
hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums
DOID:0111033
African tick-bite fever
class of disease spotted fever disease
spotted fever that has material basis in Rickettsia africae, which is transmitted by ticks
DOID:0050035
African tick bite fever
Alkhurma hemorrhagic fever class of disease Kyasanur forest disease
Human disease
DOID:0050308
Alkuraya-Kučinskas syndrome class of disease cerebral malformation autosomal recessive disease syndrome
human disease
DOID:0111555
Alpha-thalassemia mental retardation syndrome
class of disease rare disease developmental defect during embryogenesis designated intractable/rare disease alpha thalassemia alpha-thalassemia-related diseases X-linked dominant disease X-linked intellectual disability ATR-X-related syndrome syndrome with 46,XY disorder of sex development syndrome with disorder of sex development of gynecological interest alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21
DOID:0110030
Alpha-thalassemia mental retardation syndrome
Alteración del estado mental
class of disease schizophrenia disease
DOID:1229
F03.700.750.600
Alwadei syndrome
class of disease autosomal recessive non-syndromic intellectual disability neurodevelopmental disorder
autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13
DOID:0080239
Alzheimer disease 10 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variation in the region 7q36
DOID:0110043
Alzheimer disease 11 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.
DOID:0110044
Alzheimer disease 12 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22
DOID:0110045
Alzheimer disease 13 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variation in the region 1q21
DOID:0110046
Alzheimer disease 14 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variation in the region 1q25
DOID:0110047
Alzheimer disease 15 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24
DOID:0110048
Alzheimer disease 16 class of disease Alzheimer's disease
An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.
DOID:0110036
Alzheimer disease 17 class of disease Alzheimer's disease
Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2
DOID:0110049
Alzheimer disease 18 class of disease Alzheimer's disease
Alzheimer's disease that has material basis in a mutation in the ADAM10 gene on chromosome 15q21
DOID:0110050
Alzheimer disease 19 class of disease Alzheimer's disease
Alzheimer's disease that is characterized by associated variants of the gene PLD3
DOID:0110051
Alzheimer disease 5 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease autosomal dominant disease human disease
DOID:0110037
Alzheimer disease 6 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variation in the region 10q24
DOID:0110038
Alzheimer disease 7 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease Alzheimer's disease that is characterized by an associated with variation in the region 10p13
DOID:0110039
Alzheimer disease 8 class of disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.
DOID:0110041
Alzheimer's disease 1 class of disease autosomal dominant disease Alzheimer's disease
Alzheimer's disease that has material basis in mutation in the gene encoding the amyloid precursor protein on chromosome 21q
DOID:0080348
Alzheimer's disease 9 class of disease autosomal dominant disease Alzheimer's disease early-onset autosomal dominant Alzheimer disease human disease
DOID:0111364
Ambras type hypertrichosis universalis congenita class of disease hypertrichosis hypertrichosis lanuginosa congenita human disease
DOID:0111060
American histoplasmosis class of disease histoplasmosis
Human disease
DOID:1759
Angelucci's syndrome class of disease allergic conjunctivitis acute conjunctivitis Human disease
DOID:11203
Arakawa's syndrome I class of disease syndrome disorder of folate metabolism and transport constitutional megaloblastic anemia due to folate metabolism disorder vitamin metabolic disorder autosomal recessive disease genetic disorder
DOID:0111679
Arenaviridae infectious disease class of disease (-)ssRNA virus infectious disease viral infectious disease
human disease
DOID:3944
C02.782.082
Argyll Robertson pupil
class of disease abnormal pupillary function disease
symptom of human disease
DOID:14523
Argyll Robertson pupil
Askin's tumor
class of disease Ewing sarcoma
Human disease
DOID:0050608
Astrakhan spotted fever class of disease spotted fever
Human disease
DOID:0050041
Atlantic cod allergy class of disease fish allergy
fish allergy triggered by Gadus morhua
DOID:0060514
Atlantic salmon allergy class of disease fish allergy
fish allergy triggered by Salmo salar
DOID:0060515
Axenfeld-Rieger syndrome
class of disease autosomal dominant disease eye disease
autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment
DOID:14686
Axenfeld syndrome
Axenfeld-Rieger syndrome type 2 class of disease Axenfeld-Rieger syndrome chromosomal deletion syndrome
Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14
DOID:0110121
B cell and dendritic cell deficiency class of disease combined immunodeficiency
human disease
DOID:0111964
B cell deficiency class of disease primary immunodeficiency disease
primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly
DOID:2115
B cell linker protein deficiency class of disease agammaglobulinemia autosomal recessive disease Human disease
DOID:0060027
B-cell acute lymphoblastic leukemia class of disease acute lymphocytic leukemia lymphoma B-cell leukemia
human disease
DOID:0080638
B-cell adult acute lymphocytic leukemia class of disease adult acute lymphocytic leukemia B-cell childhood acute lymphoblastic leukemia lymphoma
Human disease
DOID:0060592
B-cell childhood acute lymphoblastic leukemia class of disease childhood acute lymphocytic leukemia B-cell acute lymphoblastic leukemia lymphoma
childhood acute lymphoblastic leukemia that has material basis in B-cells
DOID:0080146
B-cell lymphoma
class of disease non-Hodgkin lymphoma leukocyte disease immune disorder
non-Hodgkin lymphoma that has material basis in B cells
DOID:707
C04.557.386.480.150 C15.604.515.569.480.150 C20.683.515.761.480.150
B-cell lymphomas
B-cell prolymphocytic leukemia class of disease prolymphocytic leukemia
human disease
DOID:0081041
B-lymphoblastic leukemia/lymphoma KMT2A rearranged class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080644
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080643
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080645
B-lymphoblastic leukemia/lymphoma with IL3-IGH class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080648
B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080649
B-lymphoblastic leukemia/lymphoma with hyperdiploidy class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080646
B-lymphoblastic leukemia/lymphoma with hypodiploidy class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080647
B-lymphoblastic leukemia/lymphoma with iAMP21 class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080651
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like class of disease precursor B lymphoblastic lymphoma/leukemia human disease
DOID:0080650
BIDS syndrome
class of disease trichothiodystrophy syndromes autosomal recessive disease nonphotosensitive trichothiodystrophy Human disease
DOID:0050528
Balkan hemorrhagic fever class of disease hemorrhagic fever with renal syndrome
Human disease
DOID:0050522
Balkan nephropathy
class of disease interstitial nephritis Alport syndrome
interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria
DOID:3052
C12.200.777.419.570.643.150 C12.050.351.968.419.570.643.150 C12.950.419.570.643.150
Balo concentric sclerosis
class of disease demyelinating disease neurodegeneration multiple sclerosis disease
demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers
DOID:0060215
Balo concentric sclerosis
Bardet-Biedl syndrome 1 class of disease Bardet-Biedl syndrome
Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13
DOID:0110123
Barrett's adenocarcinoma class of disease esophagus adenocarcinoma adenocarcinoma arising in Barrett's mucosa
DOID:7941
Barrett's esophagus
class of disease esophageal disease disease
esophagus condition
DOID:9206
C04.834.154 C06.405.117.102
Barrett's esophagus
Bartholin's duct cyst
class of disease Bartholin's gland disease disease
cyst in a blocked Bartholin's gland
DOID:851
Bartholin's cyst
Bartholin's gland adenocarcinoma class of disease Bartholin's gland carcinoma adenocarcinoma vulva adenocarcinoma Human disease
DOID:6316
Bartholin's gland adenoid cystic carcinoma class of disease Bartholin's gland carcinoma Bartholin's gland adenocarcinoma Human disease
DOID:4879
Bartholin's gland adenoma class of disease Bartholin's gland benign neoplasm benign epithelial neoplasm benign neoplasms by histologic type Bartholin's gland disease adenoma
Human disease
DOID:5382
Bartholin's gland adenomyoma class of disease Bartholin's gland benign neoplasm adenomyoma Bartholin's gland carcinoma Bartholin's gland disease Human disease
DOID:6518
Bartholin's gland adenosquamous carcinoma class of disease adenosquamous carcinoma Bartholin's gland squamous cell carcinoma Bartholin's gland carcinoma
Bartholin's gland carcinoma that derives from squamous cells and gland-like cells
DOID:5630
Bartholin's gland benign neoplasm class of disease vestibular gland benign neoplasm bartholin gland neoplasm Human disease
DOID:2068
Bartholin's gland cancer class of disease vulvar cancer Bartholin's gland disease vulva cancer that is located in Bartholin's gland
DOID:60003
Bartholin's gland carcinoma
class of disease vulva carcinoma Bartholin's gland benign neoplasm Bartholin's gland cancer disease
vulva carcinoma that has material basis in abnormally proliferating cells derives from epithelial cells and is located in Bartholin's gland
DOID:3999
Bartholin's gland disease class of disease female reproductive system disease
Disease that is located in Bartholin's gland
DOID:60002
Bartholin's gland small cell carcinoma class of disease Bartholin's gland carcinoma female reproductive organ cancer small cell carcinoma
Human disease
DOID:7140
Bartholin's gland squamous cell carcinoma class of disease Bartholin's gland carcinoma squamous cell carcinoma vulva squamous cell carcinoma Human disease
DOID:6961
Bartholin's gland transitional cell carcinoma class of disease Bartholin's gland carcinoma transitional cell carcinoma
Human disease
DOID:3998
Bartter disease type 1 class of disease Bartter disease
A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.
DOID:0110142
Bartter disease type 2 class of disease Bartter disease
A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.
DOID:0110143
Bartter disease type 4b class of disease Bartter disease infantile Bartter syndrome with sensorineural deafness Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes
DOID:0110146
Bartter disease type 5 class of disease Bartter disease
Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11
DOID:0110147
Basilicata-Akhtar syndrome class of disease X-linked intellectual disability
human disease
DOID:0111838
Beckwith-Wiedemann syndrome
class of disease syndrome overgrowth syndrome disease
syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations
DOID:5572
C16.131.077.133 C16.131.260.080 C16.320.180.080
Beemer-Langer syndrome class of disease short rib – polydactyly syndrome syndrome
syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly
DOID:9249
Behcet's syndrome arthropathy class of disease arthropathy Behçet's disease
Human disease
DOID:1670
Bell's palsy
class of disease symptom or sign
facial paralysis palsy disease
facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)
DOID:12506
C01.925.256.466.087 C07.465.094 C07.465.299.250 C10.292.319.250
Bell's palsy
Bellini duct carcinoma
class of disease renal carcinoma renal cell carcinoma
disease
DOID:4464
Collecting duct carcinoma
Bernard-Soulier syndrome
class of disease Giant platelet disorder inherited blood coagulation disease blood coagulation disease autosomal recessive disease disease
Human disease
DOID:2217
C15.378.100.100.080 C15.378.140.120 C15.378.463.080 C16.320.099.080
Blessig's cysts class of disease peripheral retinal degeneration retinoschisis and retinal cysts Human disease
DOID:12164
Bordetella parapertussis whooping cough class of disease pertussis
A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has symptom coughing, has symptom sneezing, or has symptom runny nose .
DOID:11750
Borst-Jadassohn intraepidermal carcinoma class of disease skin carcinoma Human disease
DOID:7039
Bowman's membrane folds or rupture class of disease corneal disease Human disease
DOID:11552
Brainstem glioma
class of disease brain stem cancer glioma brain glioma Human disease
DOID:4202
Brainstem gliomas
Brown's tendon sheath syndrome
class of disease mechanical strabismus genetic disease
Human disease
DOID:10235
Brown-Vialetto-Van Laere syndrome
class of disease autosomal dominant disease infantile progressive bulbar palsy
Human disease
DOID:0050694
Brown-Vialetto-Van Laere syndrome 1 class of disease autosomal recessive disease Brown-Vialetto-Van Laere syndrome
human disease
DOID:0080785
Brugada syndrome 1 class of disease Brugada syndrome autosomal dominant disease Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22
DOID:0110218
Brugada syndrome 7 class of disease Brugada syndrome autosomal dominant disease Brugada syndrome that has material basis in heterozygous mutation in the SCN3B gene on chromosome 11q24
DOID:0110224
Buruli ulcer disease
class of disease primary bacterial infectious disease mycobacterium infectious disease neglected tropical disease disease
tropical disease
DOID:0050456
C01.150.252.410.040.552.475.247 C17.800.893.295
Buruli ulcer
Buschke–Ollendorff syndrome
class of disease osteopetrosis syndrome autosomal dominant disease medical condition
DOID:0111536
Buschke–Ollendorff syndrome
C-P angle neurinoma class of disease neurilemmoma cerebellopontine angle tumor Human disease
DOID:3199
CADASIL 1 class of disease CADASIL autosomal dominant disease CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13
DOID:0111035
CAKUT1 class of disease CAKUT human disease
DOID:0080206
CD3delta deficiency class of disease severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta autosomal recessive disease primary immunodeficiency disease
A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
DOID:0060016
CD3epsilon deficiency class of disease severe combined immunodeficiency autosomal recessive disease Human disease
DOID:0060017
CD40 ligand deficiency class of disease combined immunodeficiency X-linked hyper IgM syndrome X-linked recessive disease Human disease
DOID:0060022
CLOVES syndrome
class of disease overgrowth syndrome subcutaneous tissue disease rare genetic vascular tumor nevus complex vascular malformation with associated anomalies genetic skin vascular disorder rare genetic subcutaneous tissue disorder syndrome PIK3CA-related overgrowth spectrum
CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi
DOID:0080351
COACH Syndrome
class of disease syndrome Joubert syndrome Joubert syndrome and related disorders autosomal recessive disease a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
DOID:0111589
CREST syndrome
class of disease syndrome limited scleroderma disease
syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia
DOID:0060218
C06.405.117.119.500.204 C14.907.617.812.500 C14.907.823.225 C17.300.799.801.500 C17.800.784.801.500 C18.452.174.130.204
CREST syndrome
Caplan's syndrome
class of disease pneumoconiosis rheumatoid lung disease disease
pneumoconiosis that results in humans that also have rheumatoid arthritis
DOID:10326
C05.550.114.154.219 C05.799.114.219 C08.381.483.581.300 C08.381.520.702.300 C17.300.775.099.219 C24.800.340
Carrion's disease
class of disease bartonellosis disease
infectious disease produced by Bartonella bacilliformis infection
DOID:0050398
Carrion's disease
Cervicocranial syndrome
class of disease syndrome neurological disorder
syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers
DOID:6692
C05.116.900.596
Chandler syndrome class of disease corneal dystrophy iridocorneal endothelial syndrome
Human disease
DOID:11554
Charcot-Marie-Tooth disease axonal type 2H class of disease Charcot-Marie-Tooth disease type 2 autosomal recessive axonal hereditary motor and sensory neuropathy autosomal recessive disease Charcot-Marie-Tooth disease type 2 that has material basis in variation in the region 8q13-q23
DOID:0110166
Charcot-Marie-Tooth disease dominant intermediate A class of disease Charcot-Marie-Tooth disease intermediate type autosomal dominant intermediate Charcot-Marie-Tooth disease autosomal dominant disease A Charcot-Marie-Tooth disease intermediate type that has material basis in variation in the region 10q24.1-q25.1.
DOID:0110202
Charcot-Marie-Tooth disease dominant intermediate G class of disease Charcot-Marie-Tooth disease intermediate type human disease
DOID:0080294
Charcot-Marie-Tooth disease intermediate type class of disease Charcot–Marie–Tooth disease
Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s
DOID:0050543
Charcot-Marie-Tooth disease type 1 class of disease Charcot–Marie–Tooth disease autosomal dominant hereditary demyelinating motor and sensory neuropathy Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons
DOID:0050538
Charcot-Marie-Tooth disease type 1G class of disease Charcot-Marie-Tooth disease type 1 autosomal dominant disease human disease
DOID:0111560
Charcot-Marie-Tooth disease type 2A2B class of disease Charcot-Marie-Tooth disease type 2 autosomal recessive disease human disease
DOID:0111557
Charcot-Marie-Tooth disease type 2DD class of disease autosomal dominant disease Charcot-Marie-Tooth disease type 2 human disease
DOID:0111558
Charcot-Marie-Tooth disease type 2EE class of disease Charcot-Marie-Tooth disease type 2 autosomal recessive disease human disease
DOID:0111559
Charcot-Marie-Tooth disease type 3 class of disease Charcot–Marie–Tooth disease
Human disease
DOID:0050540
Charcot-Marie-Tooth disease type 4 class of disease Charcot–Marie–Tooth disease autosomal recessive hereditary demyelinating motor and sensory neuropathy Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has material basis in autosomal recessive inheritance
DOID:0050541
Charcot-Marie-Tooth disease type 7 class of disease Charcot–Marie–Tooth disease
Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa
DOID:0080069
Charcot-Marie-tooth disease type 5 class of disease Charcot–Marie–Tooth disease hereditary spastic paraplegia autosomal dominant disease Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait
DOID:0080067
Chediak-Higashi syndrome
class of disease autosomal recessive disease nervous system heredodegenerative disease eye degenerative disease syndrome disease
rare autosomal recessive disorder related to lysossomal function and the CHS1 gene
DOID:2935
C15.378.553.774.257 C20.673.774.257 C11.270.040.772
Chediak-Higashi syndrome
Clostridioides difficile colitis
class of disease colitis Clostridium difficile intestinal infectious disease disease
colitis characterized by an overgrowth of Clostridioides difficile bacteria
DOID:0060185
C01.150.252.410.222.310 C06.405.205.596.800 C06.405.469.363.800
Pseudomembranous colitis
Clostridium infectious disease class of disease bacterial infectious disease Human disease
DOID:3584 DOID:0050351
C01.150.252.410.222
Coats disease
class of disease retinal telangiectasia congenital vitreoretinal dysplasia secondary glaucoma due to a proliferation and differentiation anomaly genetic vascular disease genetic central nervous system and retinal vascular disease central nervous system and retinal vascular disease disease
Human disease
DOID:7765
C11.768.748 C14.907.823.502
Coats' disease
Coffin-Siris syndrome 1 class of disease Coffin-Siris syndrome
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.
DOID:0070042
Coffin-Siris syndrome 6 class of disease Coffin-Siris syndrome
human disease
DOID:0080297
Cogan-Reese syndrome class of disease eye disease iridocorneal endothelial syndrome
eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized by glaucoma
DOID:0060217
Conn's syndrome
class of disease hyperaldosteronism adrenal adenoma adrenal gland disease disease
adrenal adenoma characterized by over production of aldosterone
DOID:12028
Primary aldosteronism
Cornelia de Lange syndrome 1 class of disease Cornelia de Lange syndrome autosomal dominant disease Cornelia de Lange syndrome that has material basis in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13
DOID:0080505
Cornelia de Lange syndrome 2 class of disease Cornelia de Lange syndrome X-linked dominant disease Cornelia de Lange syndrome that has material basis in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11
DOID:0080506
Cornelia de Lange syndrome 3 class of disease Cornelia de Lange syndrome autosomal dominant disease A Cornelia de Lange syndrome that has material basis in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
DOID:0080507
Cornelia de Lange syndrome 4 class of disease Cornelia de Lange syndrome autosomal dominant disease Cornelia de Lange syndrome that has material basis in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24
DOID:0080508
Cornelia de Lange syndrome 5 class of disease Cornelia de Lange syndrome X-linked dominant disease Cornelia de Lange syndrome that has material basis in by mutation in the HDAC8 gene on chromosome Xq13
DOID:0080509
Cortical blindness
class of disease visual cortex disease cerebral visual impairment
human disease
DOID:11831
C10.597.751.941.162.250 C11.966.075.250 C23.888.592.763.941.162.250
Cowden syndrome 1
class of disease autosomal dominant disease multiple hamartoma syndrome syndrome disease
inherited disorder causing tumor-like growth and increased cancer risk
DOID:6457
Cowden syndrome
Cowper gland carcinoma class of disease male reproductive organ cancer Littre gland carcinoma carcinoma
male reproductive organ cancer that has material basis in abnormally proliferating cells derives from epithelial cells and is located in the Cowper's gland
DOID:7632
Crohn's colitis class of disease Crohn's disease colitis
inflammatory bowel disease characterized by inflammation located in colon only
DOID:0060192
D-2-hydroxyglutaric aciduria 1 class of disease D-2-hydroxyglutaric aciduria autosomal recessive disease human disease
DOID:0111351
D-2-hydroxyglutaric aciduria 2 class of disease autosomal dominant disease D-2-hydroxyglutaric aciduria human disease
DOID:0111352
D-glycerate dehydrogenase deficiency
class of disease primary hyperoxaluria
disease
DOID:0111671
D-glyceric aciduria class of disease inherited metabolic disorder autosomal recessive disease human disease
DOID:0111626
D-mannitol allergy class of disease drug allergy
drug allergy that has allergic trigger D-mannitol
DOID:0040019
DIC in newborn class of disease disseminated intravascular coagulation
Human disease
DOID:11246
De Barsy syndrome
class of disease inborn disorder of ornithine or proline metabolism cutis laxa autosomal recessive disease human disease
DOID:0070143
Diamond-Blackfan anemia 1 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111895
Diamond-Blackfan anemia 10 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111888
Diamond-Blackfan anemia 11 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111892
Diamond-Blackfan anemia 12 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111882
Diamond-Blackfan anemia 13 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111889
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111894
Diamond-Blackfan anemia 16 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111893
Diamond-Blackfan anemia 17 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111880
Diamond-Blackfan anemia 18 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111896
Diamond-Blackfan anemia 19 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111886
Diamond-Blackfan anemia 2 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111885
Diamond-Blackfan anemia 20 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111891
Diamond-Blackfan anemia 4 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111890
Diamond-Blackfan anemia 5 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111883
Diamond-Blackfan anemia 6 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111879
Diamond-Blackfan anemia 7 class of disease autosomal dominant disease Diamond-Blackfan anemia
human disease
DOID:0111878
Diamond-Blackfan anemia 8 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111881
Diamond-Blackfan anemia 9 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111884
Diamond-blackfan anemia 3 class of disease Diamond-Blackfan anemia autosomal dominant disease human disease
DOID:0111887
Dieulafoy lesion
class of disease stomach disease disease
Human disease
DOID:12070
Dieulafoy's lesion
Doyne honeycomb retinal dystrophy class of disease drusen genetic disease autosomal dominant disease Human disease
DOID:0060745
Ehlers-Danlos syndrome arthrochalasia type 1 class of disease Ehlers-Danlos syndrome autosomal dominant disease human disease
DOID:0080727
Ehlers-Danlos syndrome arthrochalasia type 2 class of disease autosomal dominant disease Ehlers-Danlos syndrome
human disease
DOID:0080728
Ehlers-Danlos syndrome cardiac valvular type class of disease Ehlers-Danlos syndrome autosomal recessive disease human disease
DOID:0080730
Ehlers-Danlos syndrome classic type 2 class of disease autosomal dominant disease Ehlers-Danlos syndrome
human disease
DOID:0080726
Ehlers-Danlos syndrome classic-like 1 class of disease autosomal recessive disease Ehlers-Danlos syndrome
human disease
DOID:0080731
Ehlers-Danlos syndrome classic-like 2 class of disease autosomal recessive disease Ehlers-Danlos syndrome
human disease
DOID:0080732
Ehlers-Danlos syndrome dermatosparaxis type class of disease autosomal recessive disease Ehlers-Danlos syndrome
human disease
DOID:0080733
Ehlers-Danlos syndrome kyphoscoliotic type 1 class of disease Ehlers-Danlos syndrome autosomal recessive disease human disease
DOID:0080734
Ehlers-Danlos syndrome kyphoscoliotic type 2 class of disease autosomal recessive disease Ehlers-Danlos syndrome
human disease
DOID:0080735
Ehlers-Danlos syndrome musculocontractural type 1 class of disease autosomal recessive disease Ehlers-Danlos syndrome
human disease
DOID:0080736
Ehlers-Danlos syndrome musculocontractural type 2 class of disease Ehlers-Danlos syndrome autosomal recessive disease human disease
DOID:0080737
Ehlers-Danlos syndrome spondylodysplastic type 1 class of disease autosomal recessive disease Ehlers-Danlos syndrome Ehlers-Danlos syndrome progeroid type human disease
DOID:0080738
Ehlers-Danlos syndrome spondylodysplastic type 3 class of disease Ehlers-Danlos syndrome Ehlers-Danlos syndrome progeroid type human disease
DOID:0080739
Ehlers-Danlos syndrome, periodontal type 2 Edspd2 class of disease Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome autosomal dominant disease human disease
DOID:0080987
Ehrlich tumor carcinoma class of disease breast carcinoma Human disease
DOID:5050
C04.557.470.200.200 C04.619.169
Emery-Dreifuss muscular dystrophy 3, autosomal recessive class of disease Emery-Dreifuss muscular dystrophy autosomal recessive disease human disease
DOID:0070248
Epstein-Barr virus hepatitis class of disease viral hepatitis
viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice
DOID:0050204
Erdheim-Chester disease
class of disease non-Langerhans-cell histiocytosis granulomatous autoinflammatory syndrome histiocytic and dendritic cell cancer connective tissue neoplasm immune disorder disease
rare disease
DOID:4329
C15.604.250.410.224
Erdheim–Chester disease
Evans' syndrome
class of disease primary thrombocytopenia autoimmune hemolytic anemia hemolytic anemia autoimmune thrombocytopenia Human disease
DOID:8931
FTDALS3 class of disease amyotrophic lateral sclerosis frontotemporal dementia behavioral variant of frontotemporal dementia FTDALS1 amyotrophic lateral sclerosis and frontotemporal dementia amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35
DOID:0110068
Fanconi anemia complementation group A class of disease Fanconi anemia genetic disease autosomal recessive disease Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24
DOID:0111095
Fanconi renotubular syndrome 1 class of disease Fanconi syndrome autosomal dominant disease human disease
DOID:0080757
Fanconi renotubular syndrome 2 class of disease Fanconi syndrome autosomal recessive disease human disease
DOID:0080758
Fanconi renotubular syndrome 3 class of disease Fanconi syndrome autosomal dominant disease human disease
DOID:0080759
Fanconi renotubular syndrome 4 class of disease Fanconi syndrome autosomal dominant disease human disease
DOID:0080760
Fanconi renotubular syndrome 5 class of disease Fanconi syndrome autosomal recessive disease human disease
DOID:0080761
Fanconi-like syndrome class of disease syndrome genetic disease
syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies
DOID:0090066
Far Eastern spotted fever class of disease spotted fever
Human disease
DOID:0050046
Foster-Kennedy syndrome
class of disease papilledema disease
Human disease
DOID:14555
Fox-Fordyce disease
class of disease sweat gland disease disease
chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts
DOID:1381
C17.800.946.492.285
Fraser syndrome 1 class of disease Fraser syndrome
human disease
DOID:0111405
Fraser syndrome 2 class of disease Fraser syndrome
human disease
DOID:0111407
Fraser syndrome 3 class of disease Fraser syndrome
human disease
DOID:0111406
French Canadian Leigh disease class of disease Leigh disease
human disease
DOID:0111180
Frey syndrome
class of disease autonomic nervous system disease human disease
DOID:11599
Frey's syndrome
Friedreich ataxia 1 class of disease
A Friedreich ataxia that has material basis in homozygous or compound heterozygous mutation in FXN on 9q21.1.
DOID:0111218
Friedreich ataxia 2 class of disease
Friedreich ataxia that has material basis in mutation in the 9p23-p11 chromosome region
DOID:0111219
Froelich syndrome
class of disease hypothalamic disease
hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity
DOID:6676
Adiposogenital dystrophy
Fuchs' endothelial dystrophy
class of disease corneal endothelial dystrophy disease
corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision
DOID:11555
C11.204.236.438 C11.270.162.438 C16.320.290.162.410
Fuchs' dystrophy
Fuchs' heterochromic uveitis
class of disease uveitis syndrome
syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface
DOID:9375
Fuchs heterochromic iridocyclitis
GM1 gangliosidosis type 1 class of disease gangliosidosis GM1
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations
DOID:0080502
GM1 gangliosidosis type 2 class of disease gangliosidosis GM1
GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age
DOID:0080501
GM2 gangliosidosis
class of disease gangliosidosis nervous system heredodegenerative disease human disease
DOID:3321
C10.228.140.163.100.435.825.300.300 C16.320.565.189.435.825.300.300 C16.320.565.398.641.803.350.300 C16.320.565.595.554.825.300.300 C18.452.132.100.435.825.300.300 C18.452.584.563.641.803.350.300 C18.452.648.189.435.825.300.300 C18.452.648.398.641.803.350.300 C18.452.648.595.554.825.300.300
GNE myopathy class of disease autosomal recessive disease muscular disease
human disease
DOID:0080718
GRID2-related autosomal dominant spinocerebellar ataxia class of disease spinocerebellar ataxia
human disease
DOID:0050988
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions class of disease frontotemporal lobar degeneration frontotemporal dementia primary progressive aphasia genetic disease autosomal dominant disease Human disease
DOID:0060672
Galloway-Mowat syndrome 2 class of disease Galloway-Mowat syndrome X-linked recessive disease human disease
DOID:0080244
Galloway-Mowat syndrome 3 class of disease Galloway-Mowat syndrome autosomal recessive disease human disease
DOID:0080245
Galloway-Mowat syndrome 4 class of disease Galloway-Mowat syndrome autosomal recessive disease human disease
DOID:0080246
Galloway-Mowat syndrome 5 class of disease Galloway-Mowat syndrome
human disease
DOID:0080247
Gasserian ganglion meningioma class of disease meningioma
Human disease
DOID:7635
Gaucher's disease perinatal lethal class of disease Gaucher's disease genetic disease
Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
DOID:0110960
Gaucher's disease type I class of disease Gaucher's disease genetic disease
Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22
DOID:0110957
Gaucher's disease type II class of disease Gaucher's disease genetic disease
Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
DOID:0110958
Gaucher's disease type III class of disease Gaucher's disease genetic disease
Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22
DOID:0110959
Geleophysic dysplasia 2 class of disease geleophysic dysplasia autosomal dominant disease human disease
DOID:0111726
Gerstmann syndrome
class of disease neurological disorder disease
nervous system disease that results from damage located in left parietal lobe, has symptom agraphia, has symptom acalculia, has symptom finger agnosia
DOID:4969
C10.597.606.762.100.300 C23.888.592.604.764.100.300
Gilbert syndrome
class of disease bilirubin metabolic disorder disease
metabolic disorder in which the liver processes bilirubin slowly
DOID:2739
C16.320.565.300.528 C18.452.648.300.528
Glanzmann's thrombasthenia
class of disease blood platelet disease inherited blood coagulation disease rare hemorrhagic disorder due to a qualitative platelet defect disease
human disease
DOID:2219
C15.378.100.100.820 C15.378.140.810 C15.378.463.810 C16.320.099.820
Good syndrome class of disease agammaglobulinemia combined immunodeficiency
agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma
DOID:0060028
Graves' disease class of disease autoimmune disease of endocrine system autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located in thyroid gland
DOID:12361
C11.675.349.500 C19.874.283.605 C19.874.397.370 C20.111.555
Griscelli syndrome
class of disease autosomal recessive disease integumentary system disease autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin
DOID:0060831
Griscelli syndrome type 2
class of disease Griscelli syndrome
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3.
DOID:0060833
Griscelli syndrome type 3
class of disease Griscelli syndrome
Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes
DOID:0060834
Gulf War syndrome
class of disease syndrome disease
illlnesses affecting Gulf War Vets
DOID:4491
C24.653
H syndrome
class of disease histiocytosis autosomal recessive disease syndrome
genetic condition
DOID:0111278
HCL-V class of disease hairy cell leukemia
Human disease
DOID:713
HELLP syndrome
class of disease severe pre-eclampsia disease
severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count
DOID:13133
C13.703.395.186
Haemodialysis-associated amyloidosis
class of disease amyloidosis Dialytrauma ABeta2M amyloidosis acquired metabolic disease kidney disease
#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures
DOID:0080928
Heart failure with preserved ejection fraction
class of disease heart failure congestive heart failure congestive heart failure wherein the amount of blood pumped from the heart's left ventricle with each beat (ejection fraction) is greater than 50%
DOID:9775
C14.280.434.611
Heimler syndrome 1 class of disease deafness-enamel hypoplasia-nail defects syndrome peroxisomal biogenesis disorder autosomal recessive disease human disease
DOID:0080623
Heimler syndrome 2 class of disease deafness-enamel hypoplasia-nail defects syndrome peroxisomal biogenesis disorder autosomal recessive disease human disease
DOID:0080624
Heinz body anemia class of disease congenital hemolytic anemia congenital nonspherocytic hemolytic anemia autosomal dominant disease human disease
DOID:0111363
Henoch-Schoenlein purpura
class of disease hypersensitivity vasculitis nonthrombocytopenic purpura disease
Human disease
DOID:11123
C14.907.940.777 C15.378.100.802.375 C15.378.463.515.580 C20.543.520.600 C23.550.414.950.375 C23.888.885.687.375
Henoch–Schönlein purpura
Her2-receptor negative breast cancer class of disease breast cancer
Human disease
DOID:0060080
Her2-receptor positive breast cancer class of disease breast cancer breast carcinoma by gene expression profile Hormone receptor positive breast tumor
Human disease
DOID:0060079
Hermansky-Pudlak syndrome 1 class of disease Hermansky-Pudlak syndrome
A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
DOID:0060539
Hermansky-Pudlak syndrome 2 class of disease Hermansky-Pudlak syndrome
A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
DOID:0060540
Hermansky-Pudlak syndrome 3 class of disease Hermansky-Pudlak syndrome
Hermasky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24
DOID:0060541
Hermansky-Pudlak syndrome 4 class of disease Hermansky-Pudlak syndrome
A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
DOID:0060542
Hermansky-Pudlak syndrome 5 class of disease Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14
DOID:0060543
Hermansky-Pudlak syndrome 6 class of disease Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24
DOID:0060544
Hermansky-Pudlak syndrome 7 class of disease Hermansky-Pudlak syndrome
A Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
DOID:0060545
Hermansky-Pudlak syndrome 8 class of disease Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the BLOC1S3 gene on chromosome 19q13
DOID:0060546
Hermansky-Pudlak syndrome 9 class of disease Hermansky-Pudlak syndrome
human disease
DOID:0060547
Hirata disease
class of disease autoimmune disease of endocrine system immune disorder hyperinsulinemic hypoglycemia
autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin
DOID:0040100
Hodgkin lymphoma
class of disease symptom or sign
lymphoma disease
lymphoma that is marked classically by the presence of Reed-Sternberg cells
DOID:8567
C04.557.386.355 C15.604.515.569.355 C20.683.515.761.355
Hodgkin's lymphoma
Hodgkin's granuloma class of disease Hodgkin lymphoma
human disease
DOID:8651
Hodgkin's lymphoma, lymphocytic depletion class of disease Hodgkin lymphoma
Human disease
DOID:8628
Hodgkin's lymphoma, lymphocytic-histiocytic predominance class of disease Hodgkin lymphoma
Human disease
DOID:8543
Hodgkin's lymphoma, mixed cellularity class of disease Hodgkin lymphoma
human disease
DOID:8654
Hodgkin's lymphoma, nodular sclerosis
class of disease Hodgkin lymphoma
Human disease
DOID:8838
Hodgkin's paragranuloma class of disease Hodgkin lymphoma
Human disease
DOID:8642
Horner's syndrome
class of disease autonomic neuropathy disease
A disease characterized by miosis (a constricted pupil), partial ptosis (a weak, droopy eyelid), apparent anhydrosis (decreased sweating), with apparent enophthalmos (inset eyeball)
DOID:11486
C10.177.350 C10.597.690.362.500 C11.710.528.500 C23.888.592.708.362.500
Horner's syndrome
IDH-wildtype anaplastic astrocytoma class of disease anaplastic astrocytoma
human disease
DOID:0080876
IGSF1 deficiency syndrome class of disease central congenital hypothyroidism X-linked recessive disease syndrome
X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has material basis in mutation of the IGSF1 gene on chromosome Xq26
DOID:0111140
IgG4-related disease
class of disease autoimmune connective tissue disorder autoimmune disease
systemic fibroinflammatory disease, associated with elevated serum IgG4 levels in about 60% of cases
DOID:0080356
C20.111.572
IgG4-related disease
Indian plum allergy class of disease fruit allergy
fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
DOID:0060507
Indian prawn allergy class of disease shrimp allergy crustacean allergy crustacean allergy triggered by Fenneropenaeus indicus
DOID:0060527
Indian tick typhus class of disease spotted fever
Human disease
DOID:0050042
Israeli tick typhus class of disease spotted fever
Human disease
DOID:0050043
Jaccoud's syndrome
class of disease autoimmune disease joint disorder Human disease
DOID:13080
Jaccoud arthropathy
Japanese spotted fever
class of disease spotted fever
Human disease
DOID:0050050
Jewett-Marshall bladder cancer class of disease bladder carcinoma Human disease
DOID:7315
Joubert syndrome 1 class of disease Joubert syndrome
Joubert syndrome that has material basis in homozygous mutation in the INPP5E gene on chromosome 9q34
DOID:0110980
Joubert syndrome 10 class of disease Joubert syndrome Joubert syndrome with orofaciodigital defect X-linked recessive disease A Joubert syndrome that has material basis in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
DOID:0110981
Joubert syndrome 13 class of disease Joubert syndrome
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24
DOID:0110982
Joubert syndrome 14 class of disease Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome with ocular defect human disease
DOID:0110983
Joubert syndrome 15 class of disease Joubert syndrome Joubert syndrome with ocular defect Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32
DOID:0110984
Joubert syndrome 17 class of disease Joubert syndrome
Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has material basis in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13
DOID:0110986
Joubert syndrome 18 class of disease Joubert syndrome Joubert syndrome with orofaciodigital defect Joubert syndrome that has material basis in homozygous mutation in the TCTN3 gene on chromosome 10q24
DOID:0110987
Joubert syndrome 20 class of disease Joubert syndrome Joubert syndrome with ocular defect Joubert syndrome that has material basis in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23
DOID:0110989
Joubert syndrome 21 class of disease Joubert syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13
DOID:0110990
Joubert syndrome 22 class of disease Joubert syndrome Joubert syndrome with orofaciodigital defect Joubert syndrome that has material basis in homozygous mutation in the PDE6D gene on chromosome 2q37
DOID:0110991
Joubert syndrome 23 class of disease Joubert syndrome
human disease
DOID:0110992
Joubert syndrome 24 class of disease Joubert syndrome
Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24
DOID:0110993
Joubert syndrome 25 class of disease Joubert syndrome
human disease
DOID:0110994
Joubert syndrome 26 class of disease Joubert syndrome
Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has material basis in homozygous mutation in the KIAA0556 gene on chromosome 16p12
DOID:0110995
Joubert syndrome 27 class of disease Joubert syndrome
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11
DOID:0110996
Joubert syndrome 28 class of disease Joubert syndrome Joubert syndrome with ocular defect Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23
DOID:0110997
Joubert syndrome 29 class of disease Joubert syndrome
human disease
DOID:0080276
Joubert syndrome 30 class of disease Joubert syndrome
human disease
DOID:0080275
Joubert syndrome 31 class of disease Joubert syndrome
human disease
DOID:0080277
Joubert syndrome 6 class of disease Joubert syndrome
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22
DOID:0111001
Joubert syndrome 7 class of disease Joubert syndrome
A Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2.
DOID:0111002
Joubert syndrome 8 class of disease Joubert syndrome
A Joubert syndrome that has material basis in mutation in the ARL13B gene on chromosome 3q11.1-q11.2
DOID:0111003
Kallmann syndrome
class of disease hypogonadotropic hypogonadism disease
A form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. The condition affects both males and females and causes a failure in puberty and infertility.
DOID:3614
C12.706.316.096.750 C13.351.875.253.096.750 C16.131.939.316.096.750 C16.320.467 C19.391.119.096.750 C19.391.482.600
Kallmann syndrome
Kanzaki disease class of disease Schindler disease
human disease
DOID:0112319
Kartagener syndrome class of disease primary ciliary dyskinesia situs inversus disease
primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development
DOID:0050144
C08.127.384.500 C08.200.531 C08.695.501 C09.150.531 C14.240.400.280.500 C14.280.400.280.500 C16.131.077.245.500.531 C16.131.240.400.280.500 C16.131.740.501 C16.131.810.250.500 C16.320.184.500.531 C16.320.480
Kartagener syndrome
Kawasaki disease
class of disease lymphadenitis immune disorder predominantly medium-vessel vasculitis disease
human disease in which blood vessels throughout the body become inflamed
DOID:13378
C14.907.940.560 C15.604.560 C17.800.862.560
Kawasaki disease
Kelley–Seegmiller syndrome class of disease hypoxanthine-guanine phosphoribosyltransferase deficiency hyperuricemia X-linked recessive disease disease
human disease
DOID:0112127
Kimura disease
class of disease skin disease
Human disease
DOID:7365
C07.465.815.178 C15.378.553.231.774 C15.604.315.459
King Denborough syndrome class of disease autosomal dominant disease human disease
DOID:0080990
Klatskin's tumor
class of disease intrahepatic cholangiocarcinoma disease
Human disease
DOID:4927 DOID:5246
C04.557.470.200.025.450.500
Kleefstra syndrome 1 class of disease Kleefstra syndrome autosomal dominant disease chromosomal deletion syndrome
human disease
DOID:0060352
Kleefstra syndrome 2 class of disease autosomal dominant disease Kleefstra syndrome
human disease
DOID:0080598
Klippel-Feil syndrome 1 class of disease Klippel-Feil syndrome autosomal dominant disease human disease
DOID:0080589
Klippel-Feil syndrome 2 class of disease Klippel-Feil syndrome autosomal recessive disease human disease
DOID:0080590
Klippel-Feil syndrome 3, autosomal dominant class of disease autosomal dominant disease Klippel-Feil syndrome
human disease
DOID:0080591
Klüver–Bucy syndrome
class of disease impulse control disorder disease
syndrome resulting from bilateral lesions of the medial temporal lobe
DOID:2510
C10.228.140.380.326 F03.615.400.431
Kohler's disease
class of disease symptom or sign
osteochondrosis foot diseases disease
osteochondrosis that results in death and collapse located in navicular bone of foot
DOID:11760
Köhler disease
Korean hemorrhagic fever class of disease hemorrhagic fever with renal syndrome
Human disease
DOID:0050200
Kuhnt-Junius degeneration class of disease degeneration of macula and posterior pole human disease
DOID:10873
C11.768.585.439.622
Kunjin encephalitis class of disease West Nile encephalitis Human disease
DOID:0050174
Kuru
class of disease transmissible spongiform encephalopathy disease
human disease
DOID:648
C10.228.228.800.435 C10.574.843.625 C01.207.800.435
Kuru (disease)
L-cell glucagon-like peptide producing tumor class of disease gastrointestinal neuroendocrine benign tumor Human disease
DOID:7402
L1 syndrome
class of disease X-linked intellectual disability hereditary spastic paraplegia X-linked complex spastic paraplegia nervous system heredodegenerative disease X-linked recessive disease hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range
DOID:0060246 DOID:0110762
LEOPARD syndrome 1 class of disease LEOPARD syndrome
LEOPARD syndrome that has material basis in heterozygous mutation in the PTPN11 gene on chromosome 12q24
DOID:0080548
LEOPARD syndrome 2 class of disease LEOPARD syndrome
LEOPARD syndrome that has material basis in heterozygous mutation in the RAF1 gene on chromosome 3p25
DOID:0080549
LEOPARD syndrome 3 class of disease LEOPARD syndrome
LEOPARD syndrome that has material basis in heterozygous mutation in the BRAF gene on chromosome 7q34
DOID:0080550
Lambert-Eaton myasthenic syndrome
class of disease neuromuscular junction disease channelopathy immune-mediated acquired neuromuscular junction disease paraneoplastic neurologic syndrome autoimmune disease of musculoskeletal system autoimmune disease of peripheral nervous system disease
an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)
DOID:0050214
C04.588.614.550.500.225 C04.730.856.490.225 C10.114.656.150 C10.574.781.588.225 C10.668.758.725.150 C20.111.258.500.150
Langerhans cell sarcoma
class of disease dendritic cell tumor leukocyte disease histiocytic and dendritic cell cancer sarcoma
histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones
DOID:7146
C04.557.227.500 C15.604.250.390.500
Langerhans-cell histiocytosis
class of disease histiocytosis disease
disease involving clonal proliferation of Langerhans cells
DOID:2571
C08.381.483.375 C15.604.250.400
Langerhans cell histiocytosis
Leber congenital amaurosis 1 class of disease Leber congenital amaurosis genetic disease autosomal recessive disease Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has material basis in mutation in the GUCY2D gene on chromosome 17p13
DOID:0110078
Leber hereditary optic neuropathy with demyelinating disease of CNS class of disease Leber plus disease human disease
DOID:0111756
Leber optic atrophy and dystonia class of disease Leber plus disease human disease
DOID:0111755
Leber plus disease class of disease Leber hereditary optic neuropathy syndrome
DOID:0111754
Lenz-Majewski hyperostotic dwarfism class of disease autosomal dominant disease syndrome osteochondrodysplasia
human disease
DOID:0111507
Lewy body dementia
class of disease synucleinopathy dementia
type of dementia
DOID:12217
C10.228.140.079.862.400 C10.228.140.380.422 C10.228.662.600.200 C10.574.531 F03.615.400.512
Lewy body dementia
Leydig cell tumor class of disease testicular sex cord-stromal neoplasm sex cord-gonadal stromal tumor
Human disease
DOID:2696
C04.557.475.750.847.249 C04.588.322.762.500.249 C04.588.945.440.915.500.249 C12.294.260.937.500.249 C12.758.409.937.500.249 C19.344.762.500.249 C19.391.829.782.500.249
Li-Fraumeni syndrome 1 class of disease Li-Fraumeni syndrome
human disease
DOID:0111503
Li-Fraumeni syndrome 2 class of disease Li-Fraumeni syndrome
human disease
DOID:0111504
Libman–Sacks endocarditis
class of disease marantic endocarditis autoimmune disease of cardiovascular system endocarditis disease
human disease
DOID:0080740
Lisch epithelial corneal dystrophy
class of disease epithelial and subepithelial dystrophy Human disease
DOID:0060450
Littre gland carcinoma class of disease male reproductive organ cancer male urethral cancer carcinoma
male reproductive organ cancer that has material basis in abnormally proliferating cells derives from epithelial cells and is located in the Littre glands
DOID:6721
Livedoid vasculitis
class of disease vasculitis
vasculitis with purpuric ulcers
DOID:0040099
C14.907.355.830.573 C17.800.862.406
Livedoid vasculitis
Loeffler endocarditis
class of disease restrictive cardiomyopathy non-familial restrictive cardiomyopathy disease
restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils
DOID:396
Loeffler syndrome
class of disease eosinophilic pneumonia Acute eosinophilic pneumonia allergy disease
Human disease
DOID:9503
Loeys-Dietz syndrome 1 class of disease Loeys-Dietz syndrome
Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR1 gene on chromosome 9q22
DOID:0070235
Loeys-Dietz syndrome 2 class of disease Loeys-Dietz syndrome
Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24
DOID:0070234
Loeys-Dietz syndrome 4 class of disease Loeys-Dietz syndrome
human disease
DOID:0070233
Lown-Ganong-Levine syndrome
class of disease syndrome pre-excitation syndrome genetic cardiac rhythm disease disease
syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles
DOID:13087
C14.280.067.780.560
Lown-Ganong-Levine syndrome
Lynch syndrome
class of disease autosomal dominant disease hereditary neoplastic syndromes colorectal cancer neoplasm syndrome disease
Human disease
DOID:3883
C04.588.274.476.411.307.190 C04.700.250 C06.301.371.411.307.190 C06.405.249.411.307.190 C06.405.469.158.356.190 C06.405.469.491.307.190 C16.320.700.250 C18.452.284.255
Lynch syndrome 1 class of disease Lynch syndrome
Lynch syndrome that has material basis in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16
DOID:0070271
Lytico-bodig disease
class of disease amyotrophic lateral sclerosis progressive supranuclear palsy neurodegenerative disease with dementia neurodegeneration
human disease
DOID:0111246
Léri–Weill dyschondrosteosis
class of disease osteochondrodysplasia
human disease
DOID:0060847
MALT lymphoma
class of disease marginal zone B-cell lymphoma primary cutaneous marginal zone lymphoma
non-Hodgkin lymphoma that has material basis in mucosal tissue involved in antibody production
DOID:0050909
C04.557.386.480.150.570 C15.604.515.569.480.150.570 C20.683.515.761.480.150.570
MHC class I deficiency class of disease severe combined immunodeficiency Bare lymphocyte syndrome
Human disease
DOID:0060009
MODY 1
class of disease maturity-onset diabetes of the young
medical condition
DOID:0111099
MYH9-related disorder class of disease blood platelet disease Inherited giant platelet disorder A blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
DOID:0060651
Maffucci syndrome
class of disease syndrome Ollier disease disease
syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple cavernous hemangiomas and phleboliths
DOID:0060221
Mahvash Disease class of disease endocrine pancreas disease autosomal recessive disease human disease
DOID:0112306
Martinez Monasterio Pinheiro syndrome class of disease cleft lip and cleft palate hair diseases syndactyly
form of Blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings
DOID:9003731
Masters-Allen syndrome class of disease female reproductive system disease
Human disease
DOID:14133
Mayer-Rokitansky-Kuster-Hauser syndrome class of disease syndrome
human disease
DOID:0112177
Mayer-Rokitansky-Kuster-Hauser syndrome type 1 class of disease
human disease
DOID:0112178
Meckel syndrome 1 class of disease Meckel syndrome
Meckel syndrome that has material basis in an autosomal recessive mutation of MKS1 on chromosome 17q22
DOID:0070115
Meckel syndrome 13 class of disease Meckel syndrome autosomal recessive disease human disease
DOID:0080253
Meckel's diverticulitis class of disease diverticulitis
diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth
DOID:8408
Meckel's diverticulum
class of disease genetic disease small intestine congenital defect diverticulum congenital disorder disease
congenital disorder of digestive system
DOID:9487
C06.198.859 C16.131.314.556 C23.300.415.750
Meckel's diverticulum
Meckel's diverticulum cancer class of disease ileum cancer Human disease
DOID:10152
Meesmann corneal dystrophy 1 class of disease Meesmann corneal dystrophy autosomal dominant disease human disease
DOID:0080670
Meesmann corneal dystrophy 2 class of disease Meesmann corneal dystrophy autosomal dominant disease human disease
DOID:0080671
Meier-Gorlin syndrome 1 class of disease Meier-Gorlin syndrome autosomal recessive disease Meier-Gorlin syndrome that has material basis in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32
DOID:0080512
Meige syndrome
class of disease cranio-facial dystonia focal, segmental or multifocal dystonia cranio-facial dystonia that is accompanied by blepharospasm
DOID:3982
C10.228.140.079.590 C10.228.662.300.500
Meige's syndrome
Merkel cell carcinoma
class of disease skin carcinoma rare genetic developmental defect during embryogenesis genetic epidermal disorder skin tumor or hamartoma inherited neuroendocrine tumor genetic nervous system disorder malignant dermis tumor dermis disorder neuroendocrine tumor with other location nervous system cancer rare nervous system tumor disease
rare and highly aggressive skin cancer
DOID:3965
C02.256.721.150 C02.928.216 C04.557.465.625.650.240.325 C04.557.470.200.025.370.325 C04.557.580.625.650.240.325
Merkel cell carcinoma
Middle East respiratory syndrome
class of disease acute viral respiratory tract infection coronavirus disease disease
viral respiratory infection in humans and camels
DOID:0080642
Middle East respiratory syndrome
Milker's nodule
class of disease viral infectious disease paravaccinia virus infection
Human disease
DOID:8729
Miller Fisher syndrome class of disease symptom or sign
Guillain–Barré syndrome regional variant of Guillain-Barre syndrome Guillain-Barre syndrome that manifests as a descending paralysis
DOID:12889
C10.114.750.100.500 C10.228.140.252.500 C10.292.562.350 C10.314.750.450.500 C10.668.829.350.500 C10.668.829.800.750.300.500 C11.590.312 C20.111.258.750.400.500
Miller–Dieker lissencephaly syndrome
class of disease symptom or sign
syndrome autosomal dominant classic lissencephaly autosomal dominant disease disease
A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
DOID:0060469
Mitis junctional epidermolysis bullosa
class of disease junctional epidermolysis bullosa genetic disease autosomal recessive disease human disease
DOID:0060738
Miyoshi muscular dystrophy class of disease distal muscular dystrophy
distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood
DOID:0070198
Miyoshi myopathy
Miyoshi muscular dystrophy 1 class of disease Miyoshi muscular dystrophy genetic disease autosomal recessive disease Miyoshi muscular dystrophy that has material basis in mutation in the DYSF gene on chromosome 2p13
DOID:0070199
Miyoshi muscular dystrophy 2 class of disease Miyoshi muscular dystrophy Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has material basis in a locus on chromosome 10
DOID:0070200
Monckeberg arteriosclerosis
class of disease arteriosclerosis vascular calcification Human's arterial pathology
DOID:5161
C18.452.174.130.780.500
Monckeberg's arteriosclerosis
Mooren's ulcer class of disease corneal ulcer
Human disease
DOID:10439
Morgagni cataract class of disease senile cataract Human disease
DOID:13964
Mullegama-Klein-Martinez syndrome class of disease X-linked intellectual disability
human disease
DOID:0111845
Mycoplasma pneumonia
class of disease atypical pneumonia bacterial pneumonia Mycoplasma pneumoniae infection human disease
DOID:13276 DOID:0050154
C01.150.252.400.610.610.760 C01.150.252.620.500 C08.381.677.540.500 C08.730.610.540.545 C01.748.610.540.545
N,N'-diethylthiourea allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger N,N-diethylthiourea
DOID:0040102
N,N'-diphenylthiourea allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger N,N-diphenylthiourea
DOID:0040101
NK cell deficiency class of disease primary immunodeficiency disease
human disease
DOID:0080709
NUT midline carcinoma
class of disease carcinoma rare tumor undifferentiated carcinoma Human disease
DOID:0060463
NUT midline carcinoma
Nezelof syndrome
class of disease thymic hypoplasia primary immunodeficiency disease autosomal recessive disease T cell deficiency
Human disease
DOID:2012
Niemann-Pick disease
class of disease sphingolipidosis disease
severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells
DOID:14504
C10.228.140.163.100.435.825.700 C15.604.250.410.625 C16.320.565.189.435.825.700 C16.320.565.398.641.803.730 C16.320.565.595.554.825.700 C18.452.132.100.435.825.700 C18.452.584.687.803.730 C18.452.648.189.435.825.700 C18.452.648.398.641.803.730 C18.452.648.595.554.825.700
Niemann–Pick disease
Niemann-Pick disease type A class of disease Niemann-Pick disease genetic disease
A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.
DOID:0070111
Niemann-Pick disease type B class of disease Niemann-Pick disease genetic disease
a Niemann-Pick disease characterized by visceral involvement only and survival into adulthood: material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4
DOID:0070112
C10.228.140.163.100.435.825.700.750 C15.604.250.410.625.750 C16.320.565.189.435.825.700.750 C16.320.565.398.641.803.730.750 C16.320.565.595.554.825.700.750 C18.452.132.100.435.825.700.750 C18.452.584.687.803.730.750 C18.452.648.189.435.825.700.750 C18.452.648.398.641.803.730.750 C18.452.648.595.554.825.700.750
Niemann-Pick disease, type C1 class of disease Niemann-Pick disease Niemann–Pick disease, type C genetic disease
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein
DOID:0070113
Niemann-Pick disease, type C2 class of disease Niemann-Pick disease Niemann–Pick disease, type C genetic disease
A Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC2 on chromosome 14q24.3.
DOID:0070114
Nipah virus encephalitis class of disease viral encephalitis Nipah virus infection viral infectious disease
Human disease
DOID:0050192
Noonan syndrome 1 class of disease Noonan syndrome
A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24.
DOID:0060578 DOID:0070101
Noonan syndrome 2 class of disease Noonan syndrome autosomal recessive disease Noonan syndrome that has material basis in an autosomal recessive mutation
DOID:0060580 DOID:0070102
Noonan syndrome-like disorder with loose anagen hair 1 class of disease Noonan syndrome-like disorder with loose anagen hair human disease
DOID:0080692
Noonan syndrome-like disorder with loose anagen hair 2 class of disease Noonan syndrome-like disorder with loose anagen hair human disease
DOID:0080693
Ollier disease
class of disease syndrome enchondromatosis disease
rare nonhereditary sporadic disorder
DOID:4624
Ollier disease
Opitz GBBB syndrome type I class of disease X-linked recessive disease Opitz-GBBB syndrome
human disease
DOID:0080697
Opitz GBBB syndrome type II class of disease Opitz-GBBB syndrome
human disease
DOID:0080698
Oropouche fever
class of disease viral infectious disease Bunyaviridae infectious disease disease
Human disease
DOID:0050521
Orthomyxoviridae infectious disease class of disease (-)ssRNA virus infectious disease Human disease
DOID:4493
C01.925.782.620
Orthomyxoviridae infections
Osgood-Schlatter's disease
class of disease bone inflammation disease knee disorder disease
osteochondrosis
DOID:7489
Osgood–Schlatter disease
Pacinian tumor class of disease neurofibroma
Human disease
DOID:2669
Paganini-Miozzo syndrome class of disease X-linked recessive disease X-linked intellectual disability
human disease
DOID:0111843
Pancoast tumor
class of disease lung cancer pulmonary sulcus neoplasm disease
tumor of the pulmonary apex
DOID:8007
C04.588.894.797.520.734 C08.381.540.734 C08.785.520.734
Pancoast tumor
Parkinson's disease 21 class of disease autosomal dominant disease hereditary late onset Parkinson disease late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years
DOID:0111251
Parkinson's disease 3 class of disease Parkinson's disease
late onset Parkinson's disease characterized by mean age of onset of 59 years and that has material basis in mutation in a locus in the 2p13 chromosome region
DOID:0111250
Parry–Romberg syndrome
class of disease facial nerve disease brain inflammatory disease inflammatory and autoimmune disease with epilepsy genetic peripheral neuropathy rare genetic epilepsy disease
a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body
DOID:1757
C07.465.284 C07.465.299.375 C10.292.319.375
Parry–Romberg syndrome
Partington X-linked mental retardation syndrome class of disease X-linked intellectual disability X-linked recessive disease syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria
DOID:14744
Patau syndrome
class of disease chromosomal disease total autosomal trisomy trisomy 13 disease
Human disease
DOID:11665
C10.597.606.360.835 C14.240.400.970 C14.280.400.970 C16.131.240.400.965 C16.320.180.923 C16.131.260.923 C16.131.077.919
Patau syndrome
Pearson syndrome
class of disease mitochondrial disease
mitochondrial metabolism disease
DOID:0060067
Perrault syndrome 6 class of disease Perrault syndrome human disease
DOID:0080256
Peyronie's disease
class of disease penile disease fibromatosis disease
Human disease
DOID:8616
C12.294.494.508 C17.300.715
Peyronie's disease
File:Peyronie disease.jpg
Phlegmonous dacryocystitis class of disease dacryocystitis
Human disease
DOID:12997
Plasmodium ovale malaria class of disease malaria
malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously
DOID:12919
Pleomorphic xanthoastrocytoma
class of disease astrocytoma low-grade astrocytoma Human disease
DOID:4852
Pleomorphic xanthoastrocytoma
Plummer's disease
class of disease hyperthyroidism nodular goiter Human disease
DOID:11277
Posner-Schlossman Syndrome class of disease iridocyclitis Human disease
DOID:9378
Potter's syndrome
class of disease sequence renal agenesis disease
congenital disorder of urinary system
DOID:12594
Prieto syndrome class of disease X-linked intellectual disability X-linked recessive disease Human disease
DOID:0060805
Prinzmetal's angina
class of disease Vangina pectoris coronaropathy coronary artery vasospasm disease
cardiac chest pain at rest that occurs in cycles
DOID:0111151
C14.280.647.187.150.150 C14.907.585.187.150.500 C23.888.592.612.233.500.150.150
Pthirus pubis infestation
class of disease ectoparasitism lice infestation
disease caused by the pubic louse, Pthirus pubis, a parasitic insect notorious for infesting human pubic hair
DOID:13760
Pubic lice
Qazi Markouizos syndrome
class of disease syndrome genetic syndromic intellectual disability syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation
DOID:0050740
Quartan fever
class of disease malaria
malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals
DOID:14324
RASopathy
class of disease genetic disease syndrome
Family of genetic conditions caused by mutations affecting Ras genes
DOID:0080690
REM sleep behavior disorder
class of disease sleep disorder
sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement
DOID:9091
C10.886.659.633.700 F03.870.664.633.700
RNASET2-deficient cystic leukoencephalopathy class of disease autosomal recessive disease leukodystrophy
human disease
DOID:0081007
Raynaud disease class of disease peripheral vascular disease Human disease
DOID:10300
C14.907.617.812
Raynaud's disease
Raynaud-Claes syndrome class of disease X-linked dominant disease X-linked intellectual disability
human disease
DOID:0112060
Reye syndrome
class of disease syndrome encephalopathy systemic disease disease
syndrome characterized by acute brain damage and liver function problems
DOID:14525
C06.552.241.649 C10.228.140.163.780 C18.452.132.780
Reye's syndrome
Rh disease
class of disease fetal erythroblastosis blood group incompatibility problem with Rh+ fetuses in Rh- mothers
DOID:4175
G09.188.114.750 G12.122.780 G12.186.750
Richter's syndrome
class of disease chronic lymphocytic leukemia disease
Human disease
DOID:1703
Rickettsia parkeri spotted fever class of disease spotted fever
A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.
DOID:0050051
Riedel's fibrosing thyroiditis
class of disease thyroiditis disease
thyroid disease
DOID:14351
Riley-Day syndrome
class of disease hereditary sensory and autonomic neuropathy primary orthostatic hypotension rare genetic developmental defect during embryogenesis other dermis disorder other genetic dermis disorder nervous system anomaly with eye involvement autosomal recessive hereditary sensory and autonomic neuropathy disease
hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory
DOID:11589
C10.177.575.300 C10.500.310.309 C10.574.500.496.250 C10.668.829.800.175.250 C16.131.666.310.309 C16.320.400.415.309
Familial dysautonomia
Ritscher-Schinzel syndrome 1 class of disease Ritscher–Schinzel syndrome genetic disease
Ritscher-Schinzel syndrome that has material basis in homozygous mutation in the KIAA0196 gene on chromosome 8q24
DOID:0060571
Ritter's disease
class of disease staphylococcal infection commensal bacterial infectious disease skin disease perinatal infectious disease disease
Human disease
DOID:9063
C01.150.252.410.868.951.770 C01.150.252.819.770.770 C01.800.720.770.770 C17.800.838.765.770.770
Staphylococcal scalded skin syndrome
SAPHO syndrome
class of disease syndrome autoinflammatory syndrome with skin involvement pyogenic autoinflammatory syndrome disease
variety of inflammatory bone disorders that may be associated with skin changes
DOID:13677
C05.116.099.708.025
SM-AHNMD class of disease systemic mastocytosis Human disease
DOID:4797
SOST-related sclerosing bone dysplasia class of disease hyperostosis genetic disease autosomal recessive disease hyperostosis that has material basis in a mutation in the SOST gene which results in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located in skull
DOID:0080036
Sabinas brittle hair syndrome
class of disease trichothiodystrophy syndromes genetic disease nonphotosensitive trichothiodystrophy human disease
DOID:0111874
Sakati-Nyhan syndrome
class of disease acrocephalosyndactylia
An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
DOID:0060359
Sarcomatoid carcinoma of the lung
class of disease large-cell lung carcinoma Sarcomatoid carcinoma lung carcinoma medical condition
DOID:0080777
Sarcomatoid carcinoma of lung
Scheuermann's disease
class of disease osteochondrosis kyphosis spinal osteochondrosis osteochondrosis of genetic origin spinal disease disease
osteochondrosis that results in abnormal bone growth and curvature located in thoracic vertebral column
DOID:13300
C05.116.821.500.500 C05.116.900.800.500.500 C05.116.900.808.500
Scheuermann's disease
Schnitzler syndrome
class of disease type IV hypersensitivity autoimmune urticaria unexplained periodic fever syndrome chronic urticaria Human disease
DOID:4371
C20.683.780.640.700
Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma class of disease nodular ganglioneuroblastoma Human disease
DOID:7951
Seckel syndrome 1 class of disease Seckel syndrome
Seckel syndrome that has material basis in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23
DOID:0070007
Sertoli cell tumor
class of disease testicular sex cord-stromal neoplasm sex cord-gonadal stromal tumor
Human disease
DOID:3577
C04.557.475.750.847.500 C04.588.322.762.500.500 C04.588.945.440.915.500.500 C12.294.260.937.500.500 C12.758.409.937.500.500 C19.344.762.500.500 C19.391.829.782.500.500
Sertoli cell tumor
Sertoli-Leydig cell tumor class of disease testicular sex cord-stromal neoplasm sex cord-gonadal stromal tumor
Human disease
DOID:2997
C04.557.475.750.847 C04.588.322.455.648 C04.588.322.762.500 C04.588.945.440.915.500 C12.294.260.937.500 C12.758.409.937.500 C13.351.500.056.630.705.648 C13.351.937.418.685.648 C19.344.410.648 C19.344.762.500 C19.391.630.705.648 C19.391.829.782.500
Sezary's disease
class of disease cutaneous T cell lymphoma aggressive primary cutaneous T-cell lymphoma disease
type of cutaneous lymphoma
DOID:8541
C04.557.386.480.750.800.775 C15.604.515.569.480.750.800.775 C15.604.515.841 C20.683.515.761.480.750.800.775 C20.683.515.920
Sézary's disease
Sheehan's syndrome
class of disease puerperal disorders necrosis of pituitary Simmonds' cachexia hypopituitarism disease
human disease
DOID:9476
Shukla-Vernon syndrome class of disease X-linked recessive disease syndrome
human disease
DOID:0111841
Shwartzman phenomenon
class of disease vasculitis vascular hemostatic disease Human disease
DOID:3825
C14.907.454.810 C14.907.940.890 C15.378.463.515.810
Simpson-Golabi-Behmel syndrome type 2 class of disease X-linked recessive disease Simpson-Golabi-Behmel syndrome
X-linked recessive disease that has material basis in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems
DOID:0080342
Skene gland carcinoma class of disease paraurethral gland cancer carcinoma vulva adenocarcinoma Human disease
DOID:7284
Smarca4-deficient sarcoma of thorax class of disease thoracic cancer human disease
DOID:0080532
Sotos syndrome 1 class of disease autosomal dominant disease Sotos syndrome
human disease
DOID:0112103
Sotos syndrome 2 class of disease Sotos syndrome autosomal dominant disease human disease
DOID:0112102
Spinal cord cancer class of disease central nervous system cancer spinal cord disease spinal cord neoplasm
central nervous system cancer that is located in the spinal cord
DOID:5612
Spirurida infectious disease class of disease filariasis
Human disease
DOID:1077
C01.610.335.508.700.750
Stickler syndrome 1 class of disease Stickler syndrome autosomal dominant disease human disease
DOID:0080676
Stickler syndrome type 2 class of disease Stickler syndrome autosomal dominant disease human disease
DOID:0080675
Sudeck's syndrome class of disease complex regional pain syndrome disease
Human disease
DOID:1811
C10.177.195.800 C10.668.829.250.800
Sugarman brachydactyly class of disease brachydactyly
brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position
DOID:0110979
Sweeney-Cox syndrome class of disease syndrome autosomal dominant disease human disease
DOID:0080538
T cell and NK cell immunodeficiency class of disease primary immunodeficiency disease
human disease
DOID:0080710
T cell deficiency
class of disease primary immunodeficiency disease
Human disease
DOID:11200 DOID:613
T cell, B cell, and NK cell deficiency class of disease combined immunodeficiency
human disease
DOID:0111965
T-cell acute lymphoblastic leukemia
class of disease acute T cell leukemia lymphoma acute lymphocytic leukemia viral infectious disease T-cell leukemia
Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
DOID:5603 DOID:0050523
T-cell adult acute lymphocytic leukemia class of disease adult acute lymphocytic leukemia T-cell leukemia T-cell acute lymphoblastic leukemia
Human disease
DOID:5602
T-cell childhood acute lymphocytic leukemia class of disease childhood acute lymphocytic leukemia T-cell acute lymphoblastic leukemia
childhood acute lymphoblastic leukemia that has material basis in T-cells
DOID:0080145
T-cell childhood lymphoblastic lymphoma class of disease lymphoblastic lymphoma Precursor T-lymphoblastic lymphoma
lymphoblastic lymphoma that has material basis in T-cells and that occurs during childhood
DOID:0080148
T-cell large granular lymphocyte leukemia
class of disease chronic lymphocytic leukemia acquired neutropenia T-cell leukemia disease
chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood
DOID:0050751
C04.557.337.428.580.049 C15.604.515.560.575.049 C20.683.515.528.582.049
T-cell leukemia
class of disease leukocyte disease lymphoblastic leukemia disease
Human disease
DOID:715
C04.557.337.428.580 C15.604.515.560.575 C20.683.515.528.582
Taylor's syndrome
class of disease uterine disease disease
Human disease
DOID:9346
Pelvic congestion syndrome
Teebi hypertelorism syndrome 2 class of disease Hypertelorism, Teebi type human disease
DOID:0081074
Timothy grass allergy class of disease pollen allergy pollen allergy triggered by Phleum pratense pollen
DOID:0060498
Tn Polyagglutination syndrome class of disease genetic disease hematopoietic system disease
human disease
DOID:0080520
Treacher Collins syndrome 1 class of disease Treacher Collins syndrome
human disease
DOID:0080789
Treacher Collins syndrome 2 class of disease Treacher Collins syndrome autosomal recessive disease human disease
DOID:0080790
Treacher Collins syndrome 3 class of disease Treacher Collins syndrome autosomal recessive disease human disease
DOID:0080791
Treacher Collins syndrome 4 class of disease Treacher Collins syndrome
human disease
DOID:0080792
Trichohepatoenteric syndrome 2 class of disease tricho-hepato-enteric syndrome
human disease
DOID:0111416
Turner syndrome
class of disease gonadal dysgenesis X chromosome number anomaly with female phenotype disease
chromosomal disorder in which a female is partially or completely missing an X chromosome
DOID:3491
C12.050.351.875.253.309.872 C12.050.351.875.253.795.750 C12.200.706.316.309.872 C12.200.706.316.795.750 C14.240.400.980 C14.280.400.980 C16.131.240.400.970 C16.131.260.830.835.750 C16.131.939.316.309.872 C16.131.939.316.795.750 C16.320.180.830.835.750 C19.391.119.309.872 C19.391.119.795.750 C12.800.316.309.872 C12.800.316.795.750
Turner syndrome
Uruguay faciocardiomusculoskeletal syndrome class of disease genetic disease syndrome cardiomyopathy
human disease
DOID:0112148
Usher syndrome type 1 class of disease Usher syndrome
Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa
DOID:0110826
Usher syndrome type 1E class of disease Usher syndrome type 1 Usher syndrome type 1 that has material basis in variation in the chromosome region 21q21
DOID:0110833
Usher syndrome type 1H class of disease Usher syndrome type 1 human disease
DOID:0110835
Usher syndrome type 1K class of disease Usher syndrome type 1 An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.
DOID:0110837
Usher syndrome type 2 class of disease Usher syndrome
Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa
DOID:0110827
Usher syndrome type 3 class of disease Usher syndrome
Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life
DOID:0110828
VIPoma
class of disease neuroendocrine tumor
rare endocrine tumor that overproduces vasoactive intestinal peptide
DOID:5574
C04.557.465.625.650.240.847 C04.557.470.200.025.370.847 C04.588.274.761.500.750 C04.588.322.475.500.750 C06.301.761.500.750 C06.689.667.500.750 C19.344.421.500.750
Van Esch-O'Driscoll syndrome class of disease X-linked recessive disease X-linked intellectual disability
human disease
DOID:0111840
Van Maldergem syndrome 1 class of disease Van Maldergem syndrome Van Maldergem syndrome that has material basis in homozygous mutation in the DCHS1 gene on chromosome 11p15
DOID:0080585
Van Maldergem syndrome 2 class of disease Van Maldergem syndrome Van Malergem syndrome that has material basis in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28
DOID:0080586
Verruciform xanthoma
class of disease xanthomatosis skin disease xanthoma
Human disease
DOID:5769
Volkmann's contracture
class of disease connective tissue disease disease
permanent flexion contracture of the hand at the wrist, resulting in a claw-like deformity of the hand and fingers
DOID:5587
C05.550.323.734 C05.651.180.531 C05.651.197.734 C14.907.303.531
Volkmann's contracture
WNT4 deficiency
class of disease partial bilateral aplasia of the mullerian ducts sex differentiation disease autosomal dominant disease human disease
DOID:0111526
Waardenburg syndrome type 1
class of disease Waardenburg's syndrome
human disease
DOID:0110948
Waardenburg syndrome type 2B class of disease Waardenburg's syndrome
human disease
DOID:0110947
Waardenburg syndrome type 2C class of disease Waardenburg's syndrome
human disease
DOID:0110951
Waldenström macroglobulinemia
class of disease B-cell lymphoma lymphoplasmacytic lymphoma disease
Type of blood cancer
DOID:0060901 DOID:0050747
C04.557.595.925 C14.907.454.960 C15.378.147.780.925 C15.378.463.515.960 C15.604.515.925 C20.683.780.925
Warburg micro syndrome 1 class of disease Warburg micro syndrome
Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21
DOID:0110716
Waterhouse-Friderichsen syndrome
class of disease adrenal crisis adrenal gland disease disease
adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland
DOID:9931
C01.150.252.223.500.750.500 C01.150.252.400.625.549.449.800 C10.228.228.180.500.750.500 C10.586.625.280.505.904 C15.378.100.802.843 C15.378.463.950 C19.053.500.740 C23.550.414.950.843 C23.888.885.687.843 C01.207.180.500.750.500
Waterhouse–Friderichsen syndrome
Weissenbacher-Zweymuller syndrome
class of disease Pierre Robin syndrome osteochondrodysplasia
human disease
DOID:4258
Wernicke encephalopathy
class of disease encephalopathy long-term effects of alcohol consumption thiamine deficiency disease
presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves,
DOID:2384
C10.228.140.163.960 C18.452.132.960 C18.654.521.500.133.699.827.822 C25.775.100.625 F03.900.100.875
Whitewater Arroyo hemorrhagic fever class of disease viral infectious disease viral hemorrhagic fever
Human disease
DOID:0050199
Wolf-Hirschhorn syndrome
class of disease chromosomal deletion syndrome partial deletion of the short arm of chromosome 4 disease
chromosome abnormality with a distinct craniofacial phenotype and intellectual disability
DOID:0050460
C16.131.077.944 C16.131.260.985 C16.320.180.985
Wolf–Hirschhorn syndrome
Wolffian adnexal neoplasm class of disease uterine ligament cancer Human disease
DOID:7514
Wolffian duct adenocarcinoma class of disease cervical adenocarcinoma mesonephric tumor clear cell adenocarcinoma
Human disease
DOID:5368
Wolffian duct adenoma class of disease reproductive organ benign neoplasm benign neoplasms by histologic type benign mesonephroma adenoma
Human disease
DOID:2616
Wolfram syndrome 1 class of disease Wolfram syndrome autosomal recessive disease Human disease
DOID:0110629
Wolfram syndrome 2 class of disease Wolfram syndrome autosomal recessive disease Human disease
DOID:0110630
Wolfram syndrome, mitochondrial form class of disease Wolfram syndrome
human disease
DOID:0080583
Wolman disease
class of disease lysosomal and lipase deficiency autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme
DOID:14497
C16.320.565.398.641.201.500 C16.320.565.595.201.500 C16.614.947 C18.452.584.563.641.201.500 C18.452.648.398.641.201.500 C18.452.648.595.201.500
Lysosomal acid lipase deficiency
X-Linked immunodeficiency 74 class of disease X-linked recessive disease T cell deficiency
human disease
DOID:0112063
X-linked Emery-Dreifuss muscular dystrophy 1 class of disease Emery-Dreifuss muscular dystrophy X-linked recessive disease Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of EMD on chromosome Xq28
DOID:0070246
X-linked Emery-Dreifuss muscular dystrophy 6 class of disease Emery-Dreifuss muscular dystrophy X-linked recessive disease An Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of FHL1 on chromosome Xq26.3.
DOID:0070251
X-linked agammaglobulinemia type 2 class of disease Bruton-type agammaglobulinemia autosomal recessive disease B cell deficiency human disease
DOID:0111999
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 class of disease amelogenesis imperfecta
amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region
DOID:0110059
X-linked cardiac valvular dysplasia class of disease X-linked disease heart valve disease Heart valve dysplasia
human disease
DOID:0111765
X-linked chondrodysplasia punctata class of disease chondrodysplasia punctata X-linked recessive disease Human disease
DOID:0060292
X-linked chondrodysplasia punctata 2 class of disease X-linked dominant disease chondrodysplasia punctata
chondrodysplasia puncata that has material basis in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11
DOID:0080352
X-linked chronic granulomatous disease class of disease X-linked recessive disease chronic granulomatous disease
A chronic granulomatous disease characterized by X-linked inheritance that has material basis in mutation in the CYBB gene on chromosome Xp21.1-p11.4.
DOID:0070195
X-linked chronic idiopathic intestinal pseudo-obstruction class of disease X-linked recessive disease neuronal intestinal dysplasia
human disease
DOID:0080681
X-linked cone-rod dystrophy 2 class of disease cone-rod dystrophy cone-rod dystrophy that has material basis in variation in the chromosome region Xq27
DOID:0111006
X-linked congenital hemolytic anemia class of disease congenital hemolytic anemia X-linked recessive disease human disease
DOID:0111846
X-linked congenital myopathy with fiber-type disproportion class of disease congenital fiber-type disproportion
A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has material basis in mutation in the chromosome region Xq13.1-q22.1.
DOID:0111226
X-linked deafness 1 class of disease X-linked nonsyndromic deafness human disease
DOID:0111739
X-linked deafness 2 class of disease X-linked nonsyndromic deafness human disease
DOID:0111737
X-linked deafness 3 class of disease X-linked nonsyndromic deafness human disease
DOID:0111736
X-linked deafness 7 class of disease X-linked nonsyndromic deafness human disease
DOID:0111738
X-linked disease class of disease monogenic disease monogenic disease that has material basis in mutations in genes on the X chromosome
DOID:0050735
C16.320.322
X-linked dyskeratosis congenita class of disease dyskeratosis congenita X-linked recessive disease dyskeratosis congenita that has material basis in an X-linked recessive mutation of DKC1 on chromosome Xq28
DOID:0070025
X-linked endothelial corneal dystrophy
class of disease corneal endothelial dystrophy posterior corneal dystrophy X-linked dominant disease Human disease
DOID:0060446
X-linked exudative vitreoretinopathy 2 class of disease X-linked disease exudative vitreoretinopathy
human disease
DOID:0111413
X-linked hyper IgM syndrome
class of disease hyperimmunoglobulin syndrome hyper IgM syndrome X-linked recessive disease human disease
DOID:6620
X-linked intellectual developmental disorder 108 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0111844
X-linked keratosis follicularis spinulosa decalvans class of disease keratosis follicularis spinulosa decalvans X-linked recessive disease human disease
DOID:0080754
X-linked lymphoproliferative syndrome 2 class of disease lymphoproliferative disorders X-linked lymphoproliferative disease X-linked recessive disease Human disease
DOID:0060706
X-linked mental retardation 106 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0080240
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques class of disease Olmsted syndrome X-linked recessive disease human disease
DOID:0112012
X-linked nephrolithiasis type I class of disease renal tubular transport disease X-linked recessive disease human disease
DOID:0111798
X-linked recessive hypoparathyroidism
class of disease hypoparathyroidism, familial isolated hypoparathyroidism X-linked disease human disease
DOID:0111388
X-linked retinitis pigmentosa and sinorespiratory infections class of disease syndrome X-linked disease human disease
DOID:0112124
X-linked severe congenital neutropenia class of disease X-linked recessive disease severe congenital neutropenia human disease
DOID:0112128
X-linked sideroblastic anemia class of disease Hereditary sideroblastic anemia X-linked recessive disease sideroblastic anaemia P
Human disease
DOID:0060063
X-linked spermatogenic failure 1 class of disease Sertoli cell-only syndrome
Sertoli cell-only syndrome characterized by X-linked inheritance
DOID:0070189
X-linked spermatogenic failure 2 class of disease azoospermia X-linked recessive disease azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has material basis in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13
DOID:0070185
X-linked spinal muscular atrophy 2 class of disease X-linked recessive disease spinal muscular atrophy
human disease
DOID:0111827
X-linked spinocerebellar ataxia 1 class of disease X-linked recessive disease X-linked cerebellar ataxia human disease
DOID:0111829
X-linked spinocerebellar ataxia 2 class of disease X-linked cerebellar ataxia human disease
DOID:0111830
X-linked spinocerebellar ataxia 3 class of disease X-linked cerebellar ataxia human disease
DOID:0111831
X-linked spinocerebellar ataxia 5 class of disease X-linked cerebellar ataxia X-linked recessive disease human disease
DOID:0111833
XX male syndrome
class of disease syndrome anatomical abnormality disorder of sex development X chromosome number anomaly with male phenotype gonadal dysgenesis disease
rare congenital condition where an individual with a female genotype has phenotypically male characteristics that can vary between cases
DOID:0111760
C12.050.351.875.253.064.124 C12.200.706.316.064.124 C12.800.316.064.124 C16.131.939.316.064.124 C19.391.119.064.124
Y-linked deafness class of disease nonsyndromic deafness Y-linked disease human disease
DOID:0111757
Y-linked deafness 2 class of disease Y-linked deafness human disease
DOID:0111758
Y-linked disease class of disease monogenic disease Y linkage
monogenic disease that has material basis in muations on the Y chromosome
DOID:0050738
C16.320.338
Y-linked spermatogenic failure 1 class of disease Sertoli cell-only syndrome Y-linked disease Sertoli cell-only syndrome that has material basis in deletions in the Yq11 chromosomal region
DOID:0070186
Y-linked spermatogenic failure 2 class of disease male infertility Y-linked disease spermatogenic failure A male infertility characterized by nonobstroctive azoospermia or oligozoospermia that has material basis in interstitial deletions on the Yq11.221 chromosomal region.
DOID:0070187
Zenker's paralysis
class of disease peripheral neuropathy common peroneal nerve lesion medical condition
DOID:6925
Zollinger–Ellison syndrome
class of disease syndrome disease
disease of the digestive tract in which tumors lead to excess acid and peptic ulcers
DOID:0050782
C04.730.713.988 C06.301.371.883 C06.405.249.883 C06.405.469.275.800.924 C06.405.469.965 C06.405.748.586.924 C06.405.748.947
Zollinger–Ellison syndrome
abacavir allergy class of disease drug allergy
drug allergy that has allergic trigger abacavir
DOID:0040007
abdominal aortic aneurysm
class of disease aortic aneurysm disease
aortic aneurysm that is located in the abdominal aorta
DOID:7693
C14.907.055.239.075 C14.907.109.139.075
Abdominal aortic aneurysm
abdominal obesity-metabolic syndrome class of disease autosomal dominant disease syndrome
Human disease
DOID:0060611
abdominal obesity-metabolic syndrome 3 class of disease abdominal obesity-metabolic syndrome abdominal obesity-metabolic syndrome that has material basis in heterozygous mutation in the DYRK1B gene on chromosome 19q13
DOID:0060612
abdominal tuberculosis
class of disease extrapulmonary tuberculosis
extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas
DOID:0050599
Abdominal tuberculosis
abducens nerve neoplasm class of disease cranial nerve neoplasm abducens nerve palsy
Human disease
DOID:14125
abducens nerve palsy
class of disease cranial nerve palsy paralytic squint non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve)
DOID:10865
C10.292.150
Sixth nerve palsy
abnormal pupillary function class of disease pupil disorder Human disease
DOID:11518
abnormal retinal correspondence class of disease binocular vision disease Human disease
DOID:12668
abnormal threshold of rods class of disease night blindness
Human disease
DOID:11874
abnormality of glucagon secretion class of disease endocrine pancreas disease Human disease
DOID:14427
acalculous cholecystitis class of disease cholecystitis cystitis
Human disease
DOID:2828
C06.130.564.263.249
acanthocephaliasis
class of disease parasitic helminthiasis infectious disease
Human disease
DOID:0050254
acantholytic acanthoma class of disease acanthoma
Human disease
DOID:4324
acantholytic squamous cell skin carcinoma class of disease cutaneous squamous-cell carcinoma keratinizing squamous cell carcinoma Human disease
DOID:7643
acantholytic variant squamous cell breast carcinoma class of disease breast squamous cell carcinoma Human disease
DOID:7459
acanthoma
class of disease squamous cell neoplasm Human disease
DOID:174
C04.557.470.700.040 C04.588.805.040
acanthosis nigricans
class of disease pigmentation disorder disease
A skin condition characterised by dark, velvety patches in body folds and creases.
DOID:3138
C17.800.621.430.530.100
Acanthosis nigricans
accessory nerve disease
class of disease glossopharyngeal nerve disease human disease
DOID:339
C10.292.175
Nervus accessorius
accommodative esotropia class of disease esotropia
Human disease
DOID:9839
accommodative spasm
class of disease eye accommodation disease Human disease
DOID:11637
achalasia
class of disease esophageal disease disease
esophageal disease characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing
DOID:9164
C06.405.117.119.500.432
Achalasia
achilles bursitis
class of disease bursitis foot diseases Achilles tendinitis
bursitis (inflammation of synovial sac) of bursa situated above the insertion of tendon to calcaneus
DOID:12857
achondrogenesis type IA class of disease achondrogenesis
achondrogenesis that results in abnormal ossification of the located in vertebral column or located in spine
DOID:0080054
achondrogenesis type IB
class of disease achondrogenesis autosomal recessive disease achondrogenesis that has material basis in mutation in the SLC26A2 gene which results in umbilical or inguinal hernia and a prominent rounded abdomen
DOID:0080055
achondrogenesis type II
class of disease achondrogenesis autosomal dominant disease spinal disease
achondrogenesis that has material basis in mutations in the COL2A1 gene which results in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located in vertebral column or located in pelvis
DOID:0080056
achromatopsia 2 class of disease achromatopsia autosomal recessive disease An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
DOID:0110007
achromatopsia 3 class of disease achromatopsia autosomal recessive disease An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.
DOID:0110008
achromatopsia 4 class of disease achromatopsia
achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13
DOID:0110010
achromatopsia 7 class of disease achromatopsia autosomal recessive disease An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
DOID:0110009
acid anhydride respiratory allergy class of disease respiratory allergy respiratory allergy that has allergic trigger acid anhydride
DOID:0040081
acinar cell carcinoma class of disease carcinoma
carcinoma that has material basis in abnormally proliferating cells, derives from spindle cells and/or derives from giant cells
DOID:3025
C04.557.470.200.025.215
acinar cell cystadenocarcinoma class of disease pancreatic cystadenocarcinoma cystadenocarcinoma
Human disease
DOID:7729
acinic cell breast carcinoma class of disease breast adenocarcinoma invasive ductal carcinoma acinar cell carcinoma Human disease
DOID:5743
acquired angioedema class of disease angioedema
human disease
DOID:0080941
acquired color blindness class of disease color blindness
human disease
DOID:13912
acquired gastric outlet stenosis class of disease pyloric stenosis
Human disease
DOID:14099
acquired generalized lipodystrophy
class of disease lipodystrophy complete generalized lipodystrophy rare skin disease insulin resistance acquired lipodystrophy complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth
DOID:0080300
acquired hemangioma class of disease hemangioma
Human disease
DOID:492
acquired hyperkeratosis class of disease keratosis
Human disease
DOID:13072
acquired metabolic disease class of disease metabolic disease
human disease
DOID:0060158
acquired night blindness class of disease nutritional deficiency disease night blindness
Human disease
DOID:11491
acquired polycythemia class of disease polycythemia
Human disease
DOID:2834
acquired tear duct stenosis class of disease lacrimal apparatus disease Human disease
DOID:13655
acquired thrombocytopenia class of disease thrombocytopenia
Human disease
DOID:11126
acquired von Willebrand syndrome class of disease blood coagulation disease von Willebrand's disease rare hemorrhagic disorder due to an acquired coagulation factor defect human disease
DOID:0111146
acral lentiginous melanoma
class of disease skin melanoma disease
kind of lentiginous skin melanoma
DOID:6367
acrocephalosyndactylia
class of disease synostosis craniosynostosis syndactyly disease
group of diseases
DOID:12960
C05.116.099.370.894.232.015 C05.116.099.370.894.819.100 C05.660.207.240.100 C05.660.585.800.100 C05.660.906.364.100 C05.660.906.819.100 C16.131.621.207.240.100 C16.131.621.585.800.100 C16.131.621.906.364.100 C16.131.621.906.819.100
Acrocephalosyndactyly
acrodermatitis
class of disease dermatitis Foot Dermatoses dermatitis that selectively affects the hands and feet
DOID:2722
C16.131.831.066 C17.800.174.100 C17.800.804.066
Acrodermatitis
acrodermatitis chronica atrophicans
class of disease acrodermatitis Lyme disease
An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
DOID:0060344
acrofacial dysostosis class of disease dysostosis
human disease
DOID:0060379
acropustulosis
class of disease dermatitis acrodermatitis pustulosis genodermatosis other epidermal disorder genetic epidermal disorder Human disease
DOID:4398
Acropustulosis
acrorenal syndrome class of disease syndrome autosomal recessive disease Human disease
DOID:0060347
actinic keratosis
class of disease pre-malignant neoplasm dermatoheliosis disease
human disease
DOID:8866
C04.834.450 C17.800.428.570
Actinic keratosis
activated PI3K delta syndrome
class of disease agammaglobulinemia combined immunodeficiency autosomal dominant disease medical condition
DOID:0111936
active cochlear Meniere's disease class of disease Meniere's disease
Human disease
DOID:13492
active cochleovestibular Meniere's disease class of disease Meniere's disease
Human disease
DOID:13490
active peptic ulcer disease class of disease peptic ulcer disease stomach bleeding Human disease
DOID:749
C06.405.227.700 C23.550.414.788.700
active vestibular Meniere's disease class of disease Meniere's disease
Human disease
DOID:13491
acute T cell leukemia class of disease T-cell leukemia
Human disease
DOID:5603
acute allergic serous otitis media class of disease acute serous otitis media allergy
acute serous otitis media caused by an allergen
DOID:11558
acute apical periodontitis class of disease periapical periodontitis
Human disease
DOID:11693
acute asthma class of disease asthma
human disease
DOID:0080810
acute basophilic leukemia
class of disease acute myeloid leukemia bilineal acute myeloid leukemia rare acute myeloid leukemia in which the immature cells differentiate towards basophils
DOID:0080795
C04.557.337.539.275.125
acute biphenotypic leukaemia
class of disease mixed phenotype acute leukemia acute lymphocytic leukemia acute leukemia lymphoma disease
uncommon type of leukemia which arises in multipotent progenitor cells which have the ability differentiating into both myeloid and lymphoid lineages
DOID:9953
C04.557.337.428.100 C15.604.515.560.100 C20.683.515.528.100
acute canaliculitis class of disease acute inflammation of lacrimal passage canaliculitis Human disease
DOID:6969
acute cervicitis class of disease cervicitis acute disease
human disease
DOID:10616
acute chest syndrome
class of disease lung disease human disease
DOID:1584
C08.381.074 C08.618.009 C15.378.071.141.150.150.219 C15.378.420.155.219 C16.320.070.150.219 C16.320.365.155.219
acute cholangitis class of disease ascending cholangitis
Human disease
DOID:14271
acute closed-angle glaucoma class of disease primary angle-closure glaucoma glaucoma
DOID:13862
acute conjunctivitis class of disease conjunctivitis
Human disease
DOID:11184
acute contagious conjunctivitis class of disease acute conjunctivitis Human disease
DOID:11213
acute cor pulmonale class of disease acute pulmonary heart disease Human disease
DOID:8517
acute dacryoadenitis class of disease dacryoadenitis
Human disease
DOID:952
acute dacryocystitis class of disease dacryocystitis
Human disease
DOID:12996
acute diarrhea class of disease symptom or sign
diarrhea
diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide
DOID:0050140
acute diffuse nephritis class of disease diffuse glomerulonephritis Human disease
DOID:14066
acute disseminated encephalomyelitis
class of disease encephalomyelitis
encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin
DOID:639
C10.114.375.225 C10.228.140.695.562.225 C10.314.350.225 C20.111.258.250.350 C23.550.291.500.829.188
acute endometritis class of disease endometritis
Human disease
DOID:7528
acute erythroid leukemia
class of disease acute myeloid leukemia
rare form of acute myeloid leukemia (less than 5% of AML cases) where the myeloproliferation is of erythroblastic precursors.
DOID:0080780
C04.557.337.539.275.325 C15.378.190.636.276
Acute erythroid leukemia
acute ethmoiditis class of disease ethmoid sinusitis acute disease
ethmoid sinusitis which lasts for less than 4 weeks
DOID:9506
acute eustachian salpingitis class of disease otosalpingitis otosalpingitis with a sudden onset and a short course
DOID:10550
acute female pelvic peritonitis class of disease peritonitis pelvic inflammatory diseases
Human disease
DOID:9978
acute frontal sinusitis class of disease frontal sinusitis acute disease
frontal sinusitis which lasts for less than 4 weeks
DOID:14225
acute gonococcal cervicitis class of disease acute cervicitis gonococcal infectious diseases Human disease
DOID:10615
acute gonococcal cystitis class of disease urinary tract infection gonococcal infectious diseases Human disease
DOID:13690
acute gonococcal endometritis class of disease acute endometritis gonococcal infectious diseases Human disease
DOID:7527
acute gonococcal epididymo-orchitis class of disease epididymo-orchitis Human disease
DOID:10802
acute gonococcal prostatitis class of disease prostatitis gonococcal infectious diseases Human disease
DOID:13943
acute gonococcal salpingitis class of disease acute salpingitis gonococcal infectious diseases Human disease
DOID:13942
acute hemorrhagic leukoencephalitis class of disease acute disseminated encephalomyelitis acute hemorrhagic encephalitis acute necrotizing encephalitis very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema
DOID:10992
C10.114.375.225.500 C10.114.375.362 C10.228.140.695.562.225.500 C10.228.140.695.562.375 C10.314.350.225.500 C10.314.350.375 C20.111.258.250.350.500 C20.111.258.250.425
acute hemorrhagic pancreatitis class of disease acute pancreatitis
human disease
DOID:0080999
C06.689.750.325
acute hydrops keratoconus
class of disease keratoconus eye disease
Human disease
DOID:10125
Corneal hydrops
acute infantile liver failure-multisystemic involvement syndrome class of disease liver failure, infantile autosomal recessive disease human disease
DOID:0080717
acute infection of pinna class of disease otitis externa
Human disease
DOID:10520
acute inflammation of lacrimal passage class of disease lacrimal apparatus disease Human disease
DOID:6970
acute kidney tubular necrosis
class of disease acute kidney injury disease
medical condition involving the death of tubular epithelial cells that form the renal tubules of the kidneys
DOID:12556
C12.050.351.968.419.780.050.500 C12.200.777.419.780.050.500 C12.950.419.780.050.500
acute laryngitis class of disease laryngitis
respiratory disease
DOID:9396
acute laryngopharyngitis class of disease upper respiratory tract disease laryngopharyngitis respiratory disease
DOID:11195
acute leukemia
class of disease leukemia lymphoblastic leukemia disease
human disease
DOID:12603
Acute leukemias
acute lymphocytic leukemia
class of disease acute leukemia lymphoblastic leukemia disease
leukemia that is characterized by over production of lymphoblasts.
DOID:9952
Acute lymphoblastic leukemia
acute maxillary sinusitis class of disease maxillary sinusitis acute disease
maxillary sinusitis which lasts for less than 4 weeks
DOID:2050
acute megakaryoblastic leukemia
class of disease acute myeloid leukemia leukemia bilineal acute myeloid leukemia leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers
DOID:8761
C04.557.337.539.275.450
acute monocytic leukemia
class of disease monocytic leukemia acute myeloid leukemia disease
Human disease
DOID:8864
C04.557.337.539.275.484
Acute monocytic leukemia
acute myeloid leukemia
class of disease acute leukemia myeloid leukemia disease
myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells
DOID:9119
C04.557.337.539.275
Acute myeloid leukemia
acute myeloid leukemia with BCR-ABL1 class of disease acute myeloid leukemia
human disease
DOID:0080976
acute myocardial infarction
class of disease myocardial infarction acute coronary syndrome
human disease
DOID:9408
acute myocarditis class of disease myocarditis
human disease
DOID:3951
acute necrotizing encephalitis class of disease encephalitis
Human disease
DOID:5222
acute orbital inflammation class of disease orbital disease inflammation
human disease
DOID:11230
acute pancreatitis
class of disease pancreatitis disease
Human disease
DOID:2913
Acute pancreatitis
acute pericementitis class of disease periodontitis
Human disease
DOID:10423
acute perichondritis of pinna class of disease perichondritis of auricle
human disease
DOID:221
acute poststreptococcal glomerulonephritis class of disease glomerulonephritis
Human disease
DOID:14064
acute proliferative glomerulonephritis
class of disease glomerulonephritis proliferative glomerulonephritis disease
Human disease
DOID:13138
Acute proliferative glomerulonephritis
acute promyelocytic leukemia
class of disease symptom or sign
acute myeloid leukemia bilineal acute myeloid leukemia disease
acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17
DOID:0060318
C04.557.337.539.275.700
Acute promyelocytic leukemia
acute pulmonary heart disease class of disease cor pulmonale
Human disease
DOID:8514
acute retinal necrosis syndrome
class of disease retinitis
Human disease
DOID:3611
C11.768.773.674
acute retrobulbar neuritis class of disease optic neuritis
Human disease
DOID:14155
acute salpingitis class of disease salpingitis
Human disease
DOID:10973
acute salpingo-oophoritis class of disease salpingo-oophoritis acute salpingitis Human disease
DOID:10971
acute serous otitis media class of disease acute transudative otitis media serous glue ear acute transudative otitis media with thin, watery and sterile effusion
DOID:11557
acute sphenoidal sinusitis class of disease sphenoid sinusitis acute disease
sphenoid sinusitis which lasts for less than 4 weeks
DOID:13046
acute stress disorder
class of disease anxiety disorder stress-related disorders disease
psychological response to a terrifying, traumatic, or surprising experience
DOID:6088
F03.950.750.550
acute thyroiditis class of disease thyroiditis
Human disease
DOID:14353
acute tympanitis class of disease tympanic membrane disease myringitis Human disease
DOID:13790
acute vascular insufficiency of intestine class of disease intestinal disease
Human disease
DOID:8590
adamantinoid basal cell epithelioma class of disease basal-cell carcinoma
Human disease
DOID:4290
adamantinoma
class of disease bone cancer disease
bone cancer that is located in almost exclusively in the long bones
DOID:2776
C04.588.149.030 C05.116.231.030
Adamantinoma
adamantinous craniopharyngioma class of disease craniopharyngioma
Human disease
DOID:3846
adenocarcinoma
class of disease carcinoma disease
carcinoma that has material basis in abnormally proliferating cells, derives from epithelial cells, which originate in glandular tissue
DOID:299
C04.557.470.200.025
Adenocarcinomas
adenocarcinoma in situ class of disease in situ carcinoma adenocarcinoma
Human disease
DOID:4943
C04.557.470.200.025.014 C04.557.470.200.240.124 C23.149.249
adenocarcinoma of the lung
class of disease lung cancer adenocarcinoma
non-small cell lung carcinoma that derives from epithelial cells of glandular origin
DOID:3910
C04.557.470.200.025.022 C04.588.894.797.520.055
adenofibroma class of disease benign neoplasms by histologic type fibroma
cell type benign neoplasm that is composed of glandular and fibrous tissues, with a relatively large proportion of glands
DOID:2683
C04.557.450.565.590.595.050 C04.557.470.625.050
adenoid basal cell carcinoma class of disease basal-cell carcinoma tonsil cancer Human disease
DOID:4294
adenoid cystic carcinoma
class of disease cancer cylindroma carcinoma tonsil cancer type of cancer
DOID:0080202
C04.557.470.200.025.220
Adenoid cystic carcinoma
adenoid hypertrophy
class of disease upper respiratory tract disease upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing
DOID:0060311
Adenoid hypertrophy
adenoiditis
class of disease upper respiratory tract disease nasopharyngitis inflammation of the adenoid tissue
DOID:0050145
adenoma
class of disease benign neoplasms by histologic type disease
cell type benign neoplasm that is composed of epithelial tissue in which tumor cells form glands or glandlike structures
DOID:657
C04.557.470.035
Adenomas
adenomatoid tumor
class of disease benign neoplasm benign mesothelioma type of tumor
DOID:746
C04.557.470.035.200 C04.557.470.660.200
Adenomatoid tumors
adenomyoma
class of disease carcinosarcoma carcinoma
carcinosarcoma that has material basis in gland and muscle components
DOID:2609
C04.557.435.110
Adenomyomas
adenomyoma of uterine corpus class of disease adenomyoma uterine corpus cancer carcinosarcoma of the corpus uteri uterine benign neoplasm Human disease
DOID:4994
adenomyosis
class of disease endometriosis uterine disease disease
extension of endometrial tissue into the myometrium
DOID:288
C13.351.500.852.113
Adenomyosis of the uterus
adenosarcoma class of disease carcinosarcoma
carcinosarcoma that derives from simultaneously or consecutively in mesodermal tissue and glandular epithelium
DOID:1974
C04.557.435.135 C04.557.450.795.135
adenosquamous bile duct carcinoma class of disease squamous cell carcinoma bile duct cancer human disease
DOID:5624
adenosquamous breast carcinoma class of disease breast squamous cell carcinoma adenosquamous carcinoma breast cancer squamous cell carcinoma
Human disease
DOID:5623
adenosquamous carcinoma
class of disease squamous cell carcinoma disease
squamous cell carcinoma that contains squamous cells and gland-like cells
DOID:4830
C04.557.435.250 C04.557.470.200.150
Adenosquamous carcinoma
adenosquamous cell lung carcinoma
class of disease adenosquamous carcinoma squamous cell carcinoma of the lung squamous cell carcinoma lung cancer
Human disease
DOID:4829
adenosquamous gallbladder carcinoma class of disease gallbladder squamous cell carcinoma adenosquamous carcinoma squamous cell carcinoma gallbladder cancer gallbladder carcinoma gallbladder carcinoma that derives from squamous cells and gland-like cells
DOID:5627
adenosquamous pancreas carcinoma class of disease adenosquamous carcinoma squamous cell carcinoma of pancreas squamous cell carcinoma pancreatic cancer
pancreatic ductal carcinoma that derives from squamous cells and gland-like cells
DOID:5637
adenosquamous prostate carcinoma class of disease adenosquamous carcinoma squamous cell carcinoma prostate cancer
prostate carcinoma that derives from squamous cells and gland-like cells
DOID:5634
adenoviral keratoconjunctivitis
class of disease viral conjunctivitis keratoconjunctivitis adenovirus infection
common and highly contagious viral infection of the eye
DOID:13014
Adenoviral keratoconjunctivitis
adhesions of uterus
class of disease gynatresia uterine disease disease
adhesions or fibrosis of endometrium of uterus
DOID:13812
Asherman's syndrome
adhesive otitis media class of disease ear disease otitis media adhesive middle ear disease An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.
DOID:11235
adiposis dolorosa
class of disease lipomatosis subcutaneous tissue disease rare condition characterized by generalized obesity and fatty tumors in the adipose tissue.
DOID:3928
C17.800.463.249 C18.452.584.718.500
Adiposis dolorosa
adjustment disorder
class of disease mental disorder disease
human disease
DOID:507
F03.950.500
Adjustment disorder
adolescence-adult electroclinical syndrome class of disease electroclinical syndrome absence seizure
electroclinical syndrome with onset in adolescence and adulthood
DOID:0050705
adrenal adenoma
class of disease endocrine organ benign neoplasm adrenal gland disease benign epithelial neoplasm benign neoplasm of adrenal gland adenoma disease
endocrine organ benign neoplasm, a benign tumor of the glandular type (adenoma) in the adrenal gland
DOID:656
adrenal carcinoma class of disease adrenal gland cancer carcinoma
adrenal cancer that is located in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:3950
adrenal cortex cancer class of disease adrenal gland cancer adrenal cortex neoplasm adrenal cortex disease Human disease
DOID:660
Cancers of adrenal glands
adrenal cortex disease class of disease adrenal gland disease
disease involving the adrenal cortex
DOID:3952
C19.053.098
adrenal cortical adenocarcinoma class of disease adrenocortical carcinoma adenocarcinoma
adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives from epithelial cells of glandular origin
DOID:3959
adrenal cortical hypofunction class of disease adrenal cortex disease primary adrenal insufficiency Human disease
DOID:10493
adrenal gland cancer class of disease endocrine gland cancer adrenal gland neoplasm adrenal gland disease
endocrine gland cancer located in the adrenal glands which are located above the kidneys
DOID:3953
adrenal gland disease
class of disease endocrine system disease
endocrine disease
DOID:9553
C19.053
Diseases and disorders of adrenal glands/hormones
adrenal gland ganglioneuroblastoma class of disease adrenal gland cancer adrenal neuroblastoma peripheral nervous system ganglioneuroblastoma malignant peripheral nerve neoplasm Human disease
DOID:8140
adrenal gland hyperfunction
class of disease adrenal cortex disease Human disease
DOID:3947
C19.053.800
adrenal gland pheochromocytoma class of disease phaeochromocytoma malignant pheochromocytoma adrenal medulla cancer that is characterized by overproduction of adrenaline
DOID:0050892
adrenal medulla cancer class of disease adrenal gland cancer adrenal medulla neoplasm adrenal gland cancer that is located in the adrenal medulla
DOID:5719
adrenal medulla carcinoma class of disease adrenal medulla cancer carcinoma
adrenal medulla cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:7379
adrenal neuroblastoma class of disease adrenal gland cancer nervous system cancer adrenal medulla cancer endocrine gland cancer neuroblastoma
adrenal gland cancer that derives from immature neuroblastic cells
DOID:5718
Neuroblastoma of the adrenal glands
adrenal rest tumor class of disease endocrine organ benign neoplasm Human disease
DOID:1786
C04.557.470.035.232
adrenocortical adenoma
class of disease adrenal adenoma
adrenal adenoma that is a benign tumor of the adrenal cortex
DOID:0050891
C04.588.322.078.265.500 C19.053.098.265.500 C19.053.347.500.500 C19.344.078.265.500
Adrenocortical adenoma
adult acute lymphocytic leukemia class of disease acute lymphocytic leukemia
Human disease
DOID:5604
adult acute monocytic leukemia class of disease acute monocytic leukemia
acute monocytic leukemia occurring in adults
DOID:0080149
adult astrocytic tumour class of disease astrocytoma
Human disease
DOID:3076
adult botryoid rhabdomyosarcoma class of disease botryoid embryo rhabdomyosarcoma
Human disease
DOID:6847
adult brain ependymoma class of disease brain ependymoma Human disease
DOID:7750
adult brain stem glioma class of disease Brainstem glioma brain stem cancer Human disease
DOID:4813
adult brainstem astrocytoma class of disease adult brain stem glioma brain stem astrocytic neoplasm Human disease
DOID:5922
adult brainstem gliosarcoma class of disease adult brain stem glioma human disease
DOID:4812
adult brainstem mixed glioma class of disease adult brain stem glioma Human disease
DOID:5921
adult central nervous system choriocarcinoma class of disease choriocarcinoma central nervous system cancer central nervous system adult germ cell tumor central nervous system choriocarcinoma nervous system cancer central nervous system disease
Human disease
DOID:6634
adult central nervous system embryonal carcinoma class of disease central nervous system adult germ cell tumor central nervous system embryonal carcinoma Human disease
DOID:7233
adult central nervous system germinoma class of disease central nervous system germinoma central nervous system adult germ cell tumor Human disease
DOID:7867
adult central nervous system immature teratoma class of disease adult central nervous system teratoma central nervous system immature teratoma Human disease
DOID:6018
adult central nervous system mature teratoma class of disease adult central nervous system teratoma central nervous system mature teratoma Human disease
DOID:6016
adult central nervous system mixed germ cell tumor class of disease central nervous system adult germ cell tumor mixed germ cell tumor of central nervous system Human disease
DOID:7945
adult central nervous system primitive neuroectodermal neoplasm class of disease central nervous system primitive neuroectodermal neoplasm
Human disease
DOID:3865
adult central nervous system teratoma class of disease central nervous system teratoma central nervous system adult germ cell tumor Human disease
DOID:6015
adult cerebellar neoplasm class of disease cerebellum cancer Human disease
DOID:5056
adult choroid plexus cancer class of disease choroid plexus neoplasm
Human disease
DOID:3542
adult cystic teratoma class of disease cystic teratoma Human disease
DOID:7079
adult dermatomyositis class of disease dermatomyositis
Dermatomyositis in an adult
DOID:14202
adult endodermal sinus tumor class of disease endodermal sinus tumor
endodermal sinus tumor that occurs in adults
DOID:5348
adult ependymoblastoma class of disease ependymoblastoma adult central nervous system primitive neuroectodermal neoplasm Human disease
DOID:7631
adult epithelioid sarcoma class of disease epithelioid sarcoma
Human disease
DOID:8282
adult extraosseous chondrosarcoma class of disease extraosseous chondrosarcoma Human disease
DOID:7902
adult extraosseous osteosarcoma class of disease bone cancer extraosseous osteosarcoma osteosarcoma
adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material
DOID:7827
adult familial myoclonic epilepsy 1 class of disease benign adult familial myoclonic epilepsy autosomal dominant disease human disease
DOID:0111690
adult familial myoclonic epilepsy 3 class of disease benign adult familial myoclonic epilepsy autosomal dominant disease human disease
DOID:0111695
adult fibrosarcoma class of disease fibrosarcoma conventional fibrosarcoma Human disease
DOID:3516
adult hepatocellular carcinoma class of disease hepatocellular carcinoma
hepatocellular carcinoma is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation
DOID:0070328
adult hypophosphatasia class of disease hypophosphatasia
A hypophosphatasia that has material basis in a heterozygous mutation of ALPL on chromosome 1p36.12.
DOID:0110913
adult infiltrating astrocytic neoplasm class of disease adult astrocytic tumour Human disease
DOID:7656
adult intracranial malignant hemangiopericytoma class of disease connective tissue neoplasm
Human disease
DOID:6333
adult leptomeningeal melanoma class of disease meningeal melanoma Human disease
DOID:6090
adult liposarcoma class of disease liposarcoma
Human disease
DOID:5693
adult lymphoma class of disease lymphoma
Human disease
DOID:5825
adult malignant hemangiopericytoma class of disease hemangiopericytoma hemangiopericytoma, malignant Human disease
DOID:6332
adult malignant mesenchymoma class of disease malignant mesenchymoma Human disease
DOID:5894
adult malignant schwannoma class of disease malignant peripheral nerve sheath tumor childhood malignant schwannoma Human disease
DOID:8369
adult medulloblastoma class of disease medulloblastoma
Human disease
DOID:3864
adult mesenchymal chondrosarcoma class of disease mesenchymal chondrosarcoma
adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located in the cartilage
DOID:4547
adult myxoid chondrosarcoma class of disease myxoid chondrosarcoma
adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa
DOID:6495
adult oligodendroglioma class of disease oligodendroglioma
Human disease
DOID:3186
adult papillary meningioma class of disease rhabdoid meningioma papillary meningioma Human disease
DOID:7826
adult pineal parenchymal tumor class of disease pinealoma
Human disease
DOID:5031
adult pineoblastoma class of disease adult pineal parenchymal tumor pinealoblastoma
Human disease
DOID:6648
adult pleomorphic rhabdomyosarcoma class of disease pleomorphic rhabdomyosarcoma Human disease
DOID:8251
adult spinal cord ependymoma class of disease spinal cord ependymoma Human disease
DOID:7788
adult spinal cord glioblastoma multiforme class of disease spinal cord glioma Human disease
DOID:7806
adult teratoma class of disease teratoma benign teratoma Human disease
DOID:5565
adult type testicular granulosa cell tumor class of disease testicular granulosa cell tumor Human disease
DOID:8394
adult vagina botryoid rhabdomyosarcoma class of disease vagina botryoid rhabdomyosarcoma adult botryoid rhabdomyosarcoma Human disease
DOID:6848
adult xanthogranuloma class of disease non-Langerhans-cell histiocytosis xanthogranuloma Human disease
DOID:7875
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia class of disease leukodystrophy autosomal dominant disease Leukoencephalopathy with neuroaxonal spheroids
leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has material basis in heterozygous mutation in the CSF1R gene on chromosome 5q32
DOID:0080523
adult-onset severe asthma class of disease chronic asthma human disease
DOID:0080816
adult-onset type II citrullinemia class of disease citrullinemia
human disease
DOID:0070342
advanced sleep phase syndrome 1 class of disease advanced sleep phase syndrome
advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37
DOID:0110011
afferent loop syndrome class of disease postgastrectomy syndrome Human disease
DOID:8438
C06.405.469.531.099 C23.550.767.050
aflatoxins-related hepatocellular carcinoma class of disease hepatocellular carcinoma
Human disease
DOID:5022
agammaglobulinemia 5 class of disease autosomal dominant disease agammaglobulinemia
human disease
DOID:0080588
age related macular degeneration 1 class of disease age related macular degeneration human disease
DOID:0110014
age related macular degeneration 10 class of disease age related macular degeneration hereditary retinal dystrophy An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.
DOID:0110022
age related macular degeneration 13 class of disease age related macular degeneration hereditary retinal dystrophy age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25
DOID:0110025
age related macular degeneration 14 class of disease age related macular degeneration hereditary retinal dystrophy age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21
DOID:0110026
age related macular degeneration 15 class of disease age related macular degeneration hereditary retinal dystrophy age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13
DOID:0110027
age related macular degeneration 5 class of disease age related macular degeneration hereditary retinal dystrophy age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11
DOID:0110028
aggressive digital papillary adenocarcinoma
class of disease papillary adenocarcinoma skin carcinoma adenocarcinoma sweat gland carcinoma medical condition
DOID:5590
aggressive periodontitis
class of disease periodontitis
periodontitis characterized by rapid attachment loss and bone destruction
DOID:1474
C07.465.714.533.161
aggressive systemic mastocytosis class of disease systemic mastocytosis Human disease
DOID:4798
agoraphobia
class of disease phobia disease
phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable
DOID:593
F03.080.100
agraphia
class of disease symptom or sign
writing disorder aphasia disease
disease that results in the loss of the ability to write
DOID:0060223
C10.597.606.150.500.050 C23.888.592.604.150.500.050 C10.597.606.150.550.700.125 C23.888.592.604.150.550.700.125 F03.625.374.188.700.125 F03.625.562.700.125
ainhum
class of disease connective tissue disease foot diseases genetic disease autoamputation disease
Human disease
DOID:11329
C05.116.264.143
Ainhum
akinetic mutism
class of disease encephalopathy
brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness
DOID:4267
C10.228.140.042
akinetopsia
class of disease agnosia visual perception motion perception
agnosia that is a loss of motion perception
DOID:0060130
alastrim
class of disease smallpox
milder form of smallpox
DOID:9153
alcohol abuse
class of disease substance abuse alcohol consumption alcohol-related disorders substance abuse that involves the recurring use of alcoholic beverages despite negative consequences
DOID:1574
Alcohol abuse
alcohol dependence
class of disease non-controlled substance abuse alcoholism alcohol abuse
human disease
DOID:0050741
alcohol-induced mental disorder class of disease long-term effects of alcohol consumption non-controlled substance abuse substance-induced psychosis
nental and behavioural disorders due to use of alcohol
DOID:251
alcohol-induced psychotic disorder class of disease alcohol-induced mental disorder substance-induced psychosis
organic psychotic states due mainly to excessive consumption of alcoholic beverages
DOID:252
C25.723.809.750 C25.775.100.087.750
alcohol-related birth defect class of disease fetal alcohol spectrum disorders
fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure
DOID:0050668
alcohol-related neurodevelopmental disorder class of disease fetal alcohol spectrum disorders
human disease
DOID:0050667
alcoholic cardiomyopathy
class of disease extrinsic cardiomyopathy long-term effects of alcohol consumption alcohol and health
disease in which the chronic long-term abuse of alcohol (i.e., ethanol) leads to heart failure
DOID:12935
C14.280.238.057 C25.775.100.087.250
alcoholic gastritis class of disease gastritis long-term effects of alcohol consumption chronic gastritis
human disease
DOID:8680
alcoholic hepatitis
class of disease hepatitis alcoholic liver disease disease
hepatitis (inflammation of the liver) due to excessive intake of alcohol
DOID:12351
C06.552.380.290 C06.552.645.490 C25.775.100.087.645.490
Alcoholic hepatitis
alcoholic liver cirrhosis
class of disease liver cirrhosis alcoholic liver disease
Human disease
DOID:14018
C06.552.630.380 C06.552.645.590 C25.775.100.087.645.550
Alcoholic cirrhosis
alcoholic neuropathy
class of disease inflammatory and toxic neuropathy polyneuropathy long-term effects of alcohol consumption nervous system alcohol-induced disorders disease
Human disease
DOID:14183
C10.668.829.800.050 C10.720.112.400 C25.723.705.150.400 C25.775.100.087.193.400
alcoholic pancreatitis class of disease pancreatitis long-term effects of alcohol consumption alcohol and health
human disease
DOID:4988
C06.689.750.660 C25.775.100.087.730
alcuronium bromide allergy class of disease drug allergy
drug allergy that has allergic trigger alcuronium bromide
DOID:0040077
aleukemic leukemia class of disease leukemia
leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood
DOID:6004
aleukemic leukemia cutis class of disease aleukemic leukemia Leukemia cutis
Human disease
DOID:6003
aleukemic monocytic leukemia cutis class of disease aleukemic leukemia cutis Human disease
DOID:6958
alexithymia
class of disease agnosia disease
subclinical deficiency in understanding, processing, or describing emotions
DOID:0060131
algoneurodystrophy class of disease complex regional pain syndrome
Human disease
DOID:14022
allergic asthma class of disease respiratory allergy asthma extrinsic asthma asthma with a basis in a pathological type I hypersensitivity reaction
DOID:9415
Asthma
allergic conjunctivitis
class of disease symptom or sign
chronic conjunctivitis eye allergy allergy
chronic conjunctivitis that is an inflammation of the conjunctiva
DOID:11204
C11.187.183.200 C20.543.480.200
Allergic conjunctivitis
allergic contact dermatitis
class of disease allergic dermatitis contact dermatitis disease
medical condition
DOID:3042
C17.800.174.255.100 C17.800.815.255.100 C20.543.418.150
Allergic contact dermatitis
allergic contact dermatitis of eyelid class of disease noninfectious dermatoses of eyelid allergic contact dermatitis Eyelid dermatitis
Human disease
DOID:1895
allergic rhinitis
class of disease symptom or sign
rhinitis respiratory allergy disease
human disease
DOID:4481
C08.460.799.315 C08.674.453 C09.603.799.315 C20.543.480.680.443
Allergic rhinitis
allescheriosis class of disease primary systemic mycosis Pseudallescheriasis
primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses
DOID:11186
alopecia areata
class of disease symptom or sign
alopecia autoimmune disease autoimmune skin disease condition in which hair is lost from some or all areas of the body
DOID:986
C17.800.329.937.122.147
Alopecia areata
alopecia-intellectual disability syndrome class of disease genetic syndromic intellectual disability syndrome
human disease
DOID:0080627
alopecia-mental retardation syndrome 1 class of disease autosomal recessive disease alopecia-intellectual disability syndrome human disease
DOID:0080628
alopecia-mental retardation syndrome 2 class of disease alopecia-intellectual disability syndrome autosomal recessive disease human disease
DOID:0080629
alopecia-mental retardation syndrome 4 class of disease alopecia-intellectual disability syndrome autosomal recessive disease human disease
DOID:0080950
alpha chain disease class of disease heavy chain disease intestinal neoplasm heavy chain disease that results from an overproduction of alpha antibodies (IgA)
DOID:0060126
C04.557.386.390 C06.301.371.411.512 C06.405.249.411.512 C06.405.469.491.505 C15.378.147.780.490.512 C15.604.515.435.512 C20.683.515.512 C20.683.780.490.512
alpha-thalassemia-myelodysplastic syndrome class of disease Acquired hemolytic anemia alpha-thalassemia-related diseases myelodysplastic syndrome syndrome
human disease
DOID:0112125
alternating esotropia class of disease esotropia
Human disease
DOID:9888
alternating exotropia class of disease exotropia
Human disease
DOID:1142
alveolar osteitis
class of disease periostitis disease
human disease
DOID:13585
C07.465.227
alveolar rhabdomyosarcoma
class of disease rhabdomyosarcoma
human disease
DOID:4051
C04.557.450.590.550.660.665 C04.557.450.795.550.660.665
alveoli adenoma class of disease lung adenoma bronchial neoplasm benign neoplasms by histologic type adenoma
Human disease
DOID:8003
Alveolar adenoma
amblyopia
class of disease symptom or sign
eye disease visual impairment disease
human disease
DOID:10376
C10.228.140.055 C10.597.751.941.073 C11.966.073 C23.888.592.763.941.073
Amblyopia
amelanotic melanoma
class of disease melanoma
human disease
DOID:4359
C04.557.465.625.650.510.515 C04.557.580.625.650.510.515 C04.557.665.510.515
amelogenesis imperfecta type 1B class of disease amelogenesis imperfecta autosomal dominant disease amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13
DOID:0110052
amelogenesis imperfecta type 2A6 class of disease amelogenesis imperfecta
human disease
DOID:0080960
amelogenesis imperfecta type 3B class of disease amelogenesis imperfecta autosomal dominant disease amelogenesis imperfecta type 3 human disease
DOID:0080243
amelogenesis imperfecta type 3C class of disease amelogenesis imperfecta type 3 autosomal recessive disease human disease
DOID:0111722
amenorrhea
class of disease female reproductive system disease hypomenorrhea disease
absence of a menstrual period in a woman of reproductive age
DOID:13938
C23.550.568.500
ametropic amblyopia
class of disease amblyopia refractive error
Human disease
DOID:10377
amino acid metabolic disorder class of disease inherited metabolic disorder
inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids
DOID:9252
C16.320.565.100 C18.452.648.100
amnesia
class of disease symptom or sign
cognitive disorder memory disorder psychopathological syndrome disease
cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, continuous high blood pressure and severe shock may also cause amnesia
DOID:10914
C10.597.606.525.100 C23.888.592.604.529.100 F01.700.625.100 F03.615.200
amodiaquine allergy class of disease drug allergy
drug allergy that has allergic trigger amodiaquine
DOID:0040022
amoxicillin allergy class of disease beta-lactam allergy beta-lactam allergy that has allergic trigger amoxicillin
DOID:0040004
amphetamine-related disorders class of disease substance abuse stimulant use disorder
negative health consequences of substance abuse that involves the recurring use of amphetamines
DOID:670
C25.775.225 F03.900.225
ampulla of Vater adenocarcinoma class of disease ampulla of Vater carcinoma duodenum adenocarcinoma extrahepatic bile duct adenocarcinoma adenocarcinoma
ampulla of Vater carcinoma that derives from epithelial cells of glandular origin
DOID:3502
ampulla of Vater adenosquamous carcinoma class of disease ampulla of Vater squamous cell carcinoma adenosquamous bile duct carcinoma squamous cell carcinoma ampulla of Vater cancer ampulla of Vater carcinoma that derives from squamous cells and gland-like cells
DOID:5628
ampulla of Vater cancer class of disease duodenum cancer ampulla of Vater neoplasm bile duct cancer Human disease
DOID:10020
ampulla of Vater carcinoma class of disease ampulla of Vater cancer small intestine carcinoma duodenum cancer extrahepatic bile duct carcinoma carcinoma
ampulla of Vater cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:4932
Carcinoma of the ampulla of Vater
ampulla of Vater clear cell adenocarcinoma class of disease ampulla of Vater adenocarcinoma bile duct clear cell adenocarcinoma Human disease
DOID:5308
ampulla of Vater mucinous adenocarcinoma class of disease ampulla of Vater adenocarcinoma bile duct mucinous adenocarcinoma Human disease
DOID:3693
ampulla of Vater neoplasm class of disease duodenal neoplasm bile duct disease biliary tract neoplasm Human disease
DOID:10022
ampulla of Vater small cell carcinoma class of disease ampulla of Vater carcinoma liver neuroendocrine carcinoma small cell carcinoma
Human disease
DOID:7136
ampulla of Vater squamous cell carcinoma class of disease ampulla of Vater carcinoma squamous cell bile duct carcinoma squamous cell carcinoma of the small intestine squamous cell carcinoma
ampulla of Vater carcinoma that derives from epithelial squamous cells
DOID:5527
ampullary signet ring cell adenocarcinoma class of disease ampulla of Vater adenocarcinoma bile duct signet ring cell carcinoma Human disease
DOID:3501
amusia
class of disease agnosia auditory agnosia music-specific disorders
loss of the ability to recognize musical notes, rhythms, and intervals
DOID:0060132
amyloid tumor class of disease mesenchymal cell neoplasm connective tissue benign neoplasm amyloidosis
Human disease
DOID:6755
amyloidosis
class of disease systemic disease proteostasis deficiency acquired metabolic disease disease
metabolic disease involving abnormal deposited amyloid proteins
DOID:9120
C18.452.845.500
Amyloidosis
amyotrohpic lateral sclerosis type 22 class of disease amyotrophic lateral sclerosis
amyotrophic lateral sclerosis that has material basis in mutation in the TUBA4A gene on chromosome 2q35
DOID:0060355
amyotrophic lateral sclerosis type 1 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21
DOID:0060193
amyotrophic lateral sclerosis type 10 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis and frontotemporal dementia human disease
DOID:0060201
amyotrophic lateral sclerosis type 11 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis human disease
DOID:0060202
amyotrophic lateral sclerosis type 12 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10
DOID:0060203
amyotrophic lateral sclerosis type 13 class of disease amyotrophic lateral sclerosis
amyotrophic lateral sclerosis where a mutation that has material basis in the ATXN2 gene on chromosome 12 contributes to suscepitbility
DOID:0060204
amyotrophic lateral sclerosis type 14 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis and frontotemporal dementia amyotrophic lateral sclerosis that has material basis in mutation in the VCP gene on chromosome 9
DOID:0060205
amyotrophic lateral sclerosis type 15 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis that has material basis in mutation in the UBQLN2 gene on chromosome X
DOID:0060206
amyotrophic lateral sclerosis type 18 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis that has material basis in mutation in the PFN1 gene on chromosome 17
DOID:0060209
amyotrophic lateral sclerosis type 19 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2
DOID:0060210
amyotrophic lateral sclerosis type 2 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis human disease
DOID:0060194
amyotrophic lateral sclerosis type 20 class of disease amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the HNRNPA1 gene on chromosome 12
DOID:0060211
amyotrophic lateral sclerosis type 21 class of disease amyotrophic lateral sclerosis nervous system heredodegenerative disease amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5
DOID:0060212
amyotrophic lateral sclerosis type 23 class of disease amyotrophic lateral sclerosis
human disease
DOID:0080225
amyotrophic lateral sclerosis type 3 class of disease amyotrophic lateral sclerosis
human disease
DOID:0060195
amyotrophic lateral sclerosis type 6 class of disease amyotrophic lateral sclerosis sporadic amyotrophic lateral sclerosis amyotrophic lateral sclerosis and frontotemporal dementia human disease
DOID:0060198
amyotrophic lateral sclerosis type 7 class of disease amyotrophic lateral sclerosis
human disease
DOID:0060199
amyotrophic lateral sclerosis type 8 class of disease amyotrophic lateral sclerosis
human disease
DOID:0050752
amyotrophic lateral sclerosis type 9 class of disease amyotrophic lateral sclerosis
human disease
DOID:0060200
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 class of disease neurodegeneration
A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.
DOID:0111246
amyotrophic neuralgia class of disease brachial plexus neuropathy neurodegeneration
human disease
DOID:10383
anaerobic meningitis class of disease bacterial meningitis anaerobic infection
human disease
DOID:14559
anal Buschke-Lowenstein tumor class of disease anal squamous cell carcinoma verrucous carcinoma giant condyloma acuminatum
Human disease
DOID:7175
anal Paget's disease class of disease anus adenocarcinoma extramammary Paget's disease rare genetic intestinal disease inherited digestive tract tumor rare epithelial tumor of rectum Human disease
DOID:3446
Anal Paget's disease
anal canal Paget's disease class of disease anal canal adenocarcinoma extramammary Paget's disease anal Paget's disease Human disease
DOID:8119
anal canal adenocarcinoma class of disease anus adenocarcinoma anal canal cancer adenocarcinoma
anal canal cancer that derives from epithelial cells of glandular origin
DOID:3692
anal canal cancer class of disease large intestine cancer large intestine cancer that is located in the terminal part of the large intestine
DOID:0050688
anal canal carcinoma class of disease carcinoma anal canal cancer anal canal cancer that derives from epithelial cells
DOID:6126
anal canal squamous cell carcinoma class of disease squamous cell carcinoma anal squamous cell carcinoma anal canal cancer anal canal cancer that derives from epithelial squamous cells
DOID:7177
anal cancer
class of disease anus neoplasm anal canal cancer anal disease large intestine cancer disease
Is a rare disease which it is caused in most of the cases by the infection of the Human Papilloma Virus (HPV).
DOID:14110
Anal cancer
anal carcinoma class of disease anal cancer carcinoma
anus cancer that has material basis in abnormally proliferating cells derives from epithelial cells and is located in the anus
DOID:4908
anal carcinoma in situ class of disease anal carcinoma rectum carcinoma in situ in situ carcinoma Anal dysplasia
Human disease
DOID:9087
anal colloid adenocarcinoma class of disease anus adenocarcinoma rectum mucinous adenocarcinoma anus carcinoma that derives from epithelial cells of glandular origin located in the anal colloid
DOID:3691
anal disease class of disease anorectal disorder rectal disease human disease
DOID:3128
C06.405.469.860.101
Diseases and disorders of anus and anal canal
anal fistula
class of disease rectal disease anus disease characterized by an abnormal connection between the epithelialised surface of the anal canal and the perianal skin
DOID:0060328
C06.267.550.600 C06.405.469.471.600 C06.405.469.860.752 C23.300.575.185.550.600
Anal fistula
anal gland adenocarcinoma class of disease anus adenocarcinoma anus carcinoma that derives from epithelial cells of glandular origin located in the anal gland
DOID:7531
anal margin basal cell carcinoma class of disease anal margin carcinoma basal-cell carcinoma
Human disease
DOID:4283
anal margin carcinoma class of disease anal carcinoma skin carcinoma skin cancer
anal carcinoma that has material basis in abnormally proliferating cells derives from epithelial cells and is located in the anal margin (where the canal meets the outside skin at the anus)
DOID:4284
anal margin squamous cell carcinoma class of disease anal margin carcinoma squamous cell carcinoma
Human disease
DOID:12239
anal neuroendocrine tumor class of disease anus neoplasm rectum neuroendocrine neoplasm Human disease
DOID:5545
anal spasm class of disease anal disease Human disease
DOID:11374
anal squamous cell carcinoma class of disease anal carcinoma rectum squamous cell carcinoma squamous cell carcinoma
anal carcinoma that arises near the squamocolumnar junction
DOID:5525
anal stricture
class of disease anorectal anomalies anal disease human disease
DOID:11014
C06.198.025 C16.131.314.047
anaplastic astrocytoma
class of disease astrocytoma
astrocytoma that is characterized by cells with regular, round to oval nuclei
DOID:3078
Anaplastic astrocytoma
anaplastic ependymoma class of disease ependymoma grade III glioma Human disease
DOID:5889
Anaplastic ependymoma
anaplastic large-cell lymphoma
class of disease T-cell lymphoma non-Hodgkin lymphoma
non-Hodgkin lymphoma involving aberrant T-cells
DOID:0050744
C04.557.386.480.750.399 C15.604.515.569.480.750.600 C20.683.515.761.480.750.399
anaplastic oligodendroglioma
class of disease oligodendroglioma
human disease
DOID:7154
Anaplastic oligodendroglioma
anaplastic thyroid cancer
class of disease thyroid cancer large cell carcinoma undifferentiated carcinoma thyroid carcinoma form of thyroid cancer
DOID:0080522
anatomical narrow angle borderline glaucoma class of disease borderline glaucoma chronic closed-angle glaucoma Human disease
DOID:13327
anauxetic dysplasia class of disease spondyloepimetaphyseal dysplasia
human disease
DOID:0080942
anauxetic dysplasia 2 class of disease autosomal recessive disease anauxetic dysplasia human disease
DOID:0080962
androgen insensitivity syndrome
class of disease pseudohermaphroditism sex differentiation disease disease
sex differentiation condition involving hormonal resistance due to androgen receptor dysfunction in a karyotypically male person
DOID:4674
C12.706.316.096.500 C13.351.875.253.096.500 C16.131.939.316.096.500 C16.320.322.061 C19.391.119.096.500
Androgen insensitivity syndrome
androgenic alopecia
class of disease baldness androgen-dependent syndrome disease
hair loss due to susceptibility of hair follicles to androgenic miniaturization
DOID:0050801
Androgenic alopecia
anemia
class of disease symptom or sign
hematopoietic system disease cytopenia hemic system symptom disease
decrease in number of red blood cells
DOID:2355
C15.378.071
Anemias
anemia of prematurity
class of disease neonatal anemia premature infant disease Human disease
DOID:11243
anencephaly
class of disease nervous system malformations disease
absence of a major portion of the brain, skull, and scalp that occurs during embryonic development
DOID:0060668
C10.500.680.196 C16.131.085.197 C16.131.666.680.196
Anencephaly
aneruptive fever class of disease spotted fever
A spotted fever that has material basis in Rickettsia helvetica, which is transmitted by ticks (Ixodes sp). The infection has symptom fever, has symptom headache, has symptom myalgia.
DOID:0050484
aneurysm of heart
class of disease heart disease aneurysm disease
Human disease
DOID:9768
C14.280.358 C14.907.055.608
Heart aneurysms
aneurysm-osteoarthritis syndrome class of disease Loeys-Dietz syndrome
human disease
DOID:0070237
angiodysplasia
class of disease vascular disease disease
vascular disease that is characterized as a small vascular malformation of the gut
DOID:2494
C14.907.075
Angiodysplasia
angiodysplasia of intestine class of disease intestinal disease angiodysplasia
Human disease
DOID:10846
angioid streaks
class of disease retinal disease rare genetic eye disease genetic disease
Human disease
DOID:13401
C11.768.094
angioid streaks of choroid class of disease choroidal sclerosis angioid streaks nervous system heredodegenerative disease genetic vascular disease choroid disease retinal degeneration angioid streaks that involves the optic choroid
DOID:979
angioimmunoblastic T-cell lymphoma
class of disease T-cell lymphoma peripheral T-cell lymphoma immunoblastic lymphadenopathy peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis
DOID:0111147
angiokeratoma
class of disease skin hemangioma benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis
DOID:479
C04.557.645.115
Angiokeratoma
angiokeratoma circumscriptum class of disease skin benign neoplasm angiokeratoma
Human disease
DOID:5949
angiokeratoma of Fordyce
class of disease skin benign neoplasm angiokeratoma disease
sebaceous glands that are present in most individuals
DOID:664
Fordyce's spots
angiokeratoma of Mibelli
class of disease angiokeratoma
Human disease
DOID:5948
angiolipoma
class of disease lipoma
lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma
DOID:3616
C04.557.450.550.100
Angiolipoma
angioma serpiginosum
class of disease skin hemangioma skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located in the blood vessels of the skin
DOID:4028
angiomatous meningioma class of disease meningioma
Human disease
DOID:6548
angiomyolipoma
class of disease benign neoplasms by histologic type disease
cell type benign neoplasm that from perivascular epithelioid cells
DOID:3314
C04.557.450.550.125 C04.557.450.692.249
Angiomyolipomas
angiomyoma class of disease benign perivascular tumor vascular disease
Human disease
DOID:4265
C04.557.450.590.450.125
angiosarcoma
class of disease vascular tissue neoplasm vascular cancer disease
malignant Vascular tumor that results in rapidly proliferating, extensively infiltrating anaplastic cells derives from blood vessels and derived from the lining of irregular blood-filled spaces
DOID:0001816
Angiosarcoma
angle-closure glaucoma class of disease glaucoma
human disease
DOID:13550
C11.525.381.056
angular blepharoconjunctivitis class of disease blepharoconjunctivitis blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area
DOID:2455
angular cheilitis
class of disease symptom or sign
cheilitis disease
cheilitis characterized by inflammation of one or both of the corners of the mouth
DOID:0060312
Angular cheilitis
anhidrosis
class of disease hypohidrosis disease
Human disease
DOID:11156
animal phobia
class of disease specific phobia disease
specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all
DOID:600
aniseikonia
class of disease refractive error dysmetropsia disease
Human disease
DOID:0050304 DOID:12274
C11.744.116
anismus
class of disease symptom or sign
focal dystonia constipation
failure of the normal relaxation of pelvic floor muscles during attempted defecation
DOID:0050839
anisometropia
class of disease refractive error disease
human disease
DOID:12273
C11.744.126
ankyloglossia
class of disease tongue disease genetic nervous system disorder genetic disease
congenital disorder of tongue mobility
DOID:0060604
C07.160
Ankyloglossia
ankylosing spondylitis 1 class of disease ankylosing spondylitis
human disease
DOID:0080603
ankylosing spondylitis 2 class of disease ankylosing spondylitis autosomal dominant disease human disease
DOID:0080604
ankylosing spondylitis 3 class of disease ankylosing spondylitis
human disease
DOID:0080605
ankylosis
class of disease arthropathy joint stiffness disease
Human disease
DOID:227
C05.550.069
Ankylosis
anodontia
class of disease tooth agenesis tooth agenesis tooth abnormality tooth pathology disease
human disease
DOID:13714
C07.650.800.100 C07.793.700.100 C16.131.850.800.100
anomic aphasia
class of disease symptom or sign
aphasia clinical sign disease
type of aphasia
DOID:4541
C10.597.606.150.500.090 C23.888.592.604.150.500.090
anorexia nervosa
class of disease eating disorder disease
type of eating disorder
DOID:8689
F03.400.128
Anorexia nervosa
anosognosia
class of disease agnosia disease
Unawareness of one's own illness, symptoms or impairments
DOID:0060133
anovulation
class of disease ovarian disease disease
human disease
DOID:3781
C13.351.500.056.630.050 C19.391.630.050 G08.686.784.690.080
anterior cerebral artery infarction
class of disease cerebral infarction cerebral artery occlusion Human disease
DOID:3528
C10.228.140.300.150.477.200.400 C10.228.140.300.510.200.325 C10.228.140.300.775.200.200.400 C14.907.253.092.477.200.400 C14.907.253.560.200.325 C14.907.253.855.200.200.400 C23.550.513.355.250.200.400 C23.550.717.489.250.200.400
anterior compartment syndrome
class of disease compartment syndrome
disease
DOID:3933
C05.651.180.063 C14.907.303.063
anterior corneal pigmentation class of disease corneal deposit Human disease
DOID:12307
anterior dislocation of lens class of disease globe disease lens subluxation Human disease
DOID:2460
anterior horn cell disease
class of disease spinal muscular atrophy
Human disease
DOID:4873
anterior ischemic optic neuropathy
class of disease ischemic optic neuropathy optic nerve disease
Human disease
DOID:12010
anterior optic tract meningioma class of disease optic nerve tumor visual pathway meningioma Human disease
DOID:6334
anterior scleritis class of disease scleritis
Human disease
DOID:13794
anterior segment dysgenesis 1 class of disease corneal opacification and other ocular anomalies autosomal dominant disease human disease
DOID:0080606
anterior segment dysgenesis 2 class of disease autosomal recessive disease corneal opacification and other ocular anomalies human disease
DOID:0080607
anterior segment dysgenesis 3 class of disease autosomal dominant disease corneal opacification and other ocular anomalies human disease
DOID:0080608
anterior segment dysgenesis 4 class of disease corneal opacification and other ocular anomalies autosomal dominant disease human disease
DOID:0080609
anterior segment dysgenesis 5 class of disease corneal opacification and other ocular anomalies human disease
DOID:0080610
anterior spinal artery syndrome
class of disease syndrome cerebrovascular disease vascular myelopathy artery disease Human disease
DOID:6712
C10.228.854.785.650.100 C14.907.790.550.100
anterior urethral cancer
class of disease urethral cancer female urethral cancer Human disease
DOID:8272
anterior uveitis class of disease uveitis panuveitis
Human disease
DOID:1407
C11.941.879.780.880
anterograde amnesia
class of disease amnesia
loss of the ability to create new memories after the onset of amnesia
DOID:5340
C10.597.606.525.100.075 C23.888.592.604.529.100.075 F01.700.625.100.075 F03.615.200.137
anterolateral myocardial infarction class of disease myocardial infarction
Human disease
DOID:5845
anteroseptal myocardial infarction class of disease myocardial infarction
Human disease
DOID:5855
anthracosilicosis class of disease pneumoconiosis anthracosis
human disease
DOID:10324
C08.381.483.581.062.500 C08.381.483.581.760.125 C08.381.520.702.062.500 C08.381.520.702.760.125 C24.800.834.201
anthracosis
class of disease occupational disease pneumoconiosis disease
human disease
DOID:10327
C08.381.483.581.062 C08.381.520.702.062
Black lung disease
anti-basement membrane glomerulonephritis class of disease Goodpasture syndrome
Human disease
DOID:4780
antidepressant abuse class of disease substance abuse abuse of medicaments substance abuse that involves the recurring use of antidepressant drugs despite negative consequences
DOID:11718
antisocial personality disorder
class of disease Cluster B personality disorders personality disorder disease
Personality disorder that involves a pervasive pattern of disregard for other people
DOID:10939
F03.675.050
Antisocial personality disorder
antisynthetase syndrome
class of disease autoimmune disease idiopathic inflammatory myopathy human disease
DOID:0080744
anuria
class of disease symptom or sign
kidney disease oliguria urological symptom lack of urine
DOID:2983
C12.050.351.968.419.078 C12.200.777.934.141 C12.200.777.419.078 C12.050.351.968.934.070 C12.950.419.078 C12.950.934.070
anus adenocarcinoma class of disease anal carcinoma adenocarcinoma
anal carcinoma that originating in the cortex of the adrenal gland and derives from epithelial cells of glandular origin
DOID:3447
anus basaloid carcinoma class of disease anal squamous cell carcinoma basaloid squamous cell carcinoma Human disease
DOID:7174
anus leiomyoma class of disease leiomyoma benign neoplasm of anus rectum leiomyoma anus neoplasm Human disease
DOID:5134
anus leiomyosarcoma class of disease anus sarcoma leiomyosarcoma rectum leiomyosarcoma human disease
DOID:5267
anus lymphoma class of disease anal cancer lymphoma
Human disease
DOID:14139
anus neoplasm class of disease intestinal neoplasm anal disease intestinal benign neoplasm Human disease
DOID:4551
C04.588.274.476.411.307.790.040 C06.301.371.411.307.790.040 C06.405.249.411.307.790.040 C06.405.469.491.307.790.040 C06.405.469.860.101.163 C06.405.469.860.180.500.040
anus rhabdomyosarcoma class of disease anus sarcoma rhabdomyosarcoma rectum rhabdomyosarcoma anal cancer
rhabdomyosarcoma and sarcoma of the anus that is located in the anus
DOID:4066
anus sarcoma class of disease anal cancer sarcoma intestinal benign neoplasm sarcoma and malignant neoplasm of anus that is located in the anus
DOID:4067
anxiety disorder
class of disease cognitive disorder disease
cognitive disorder with an excessive, irrational dread of everyday situations
DOID:2030
F03.080
Anxiety disorders
aorta angiosarcoma class of disease angiosarcoma aortic disease human disease
DOID:4510
aorta atresia class of disease aortic disease aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta
DOID:14037
aortic aneurysm
class of disease aortic disease aneurysm clinical sign disease
aorta to greater than 1.5 times normal size
DOID:3627
C14.907.055.239 C14.907.109.139
Aortic aneurysms
aortic atherosclerosis class of disease atherosclerosis
Human disease
DOID:10230
aortic disease class of disease artery disease artery disease characterized by degeneration of the cells composing the aortic wall
DOID:520
C14.907.109
aortic malignant tumor class of disease vascular cancer aortic disease Human disease
DOID:8352
aortic valve disease class of disease heart valve disease aortic disease Human disease
DOID:62
C14.280.484.048
Aortic valve diseases
aortic valve disease 1 class of disease familial bicuspid aortic valve bicuspid aortic valve disease that has material basis in heterozygous mutation in the NOTCH1 gene on chromosome 9q34
DOID:0080333
aortic valve disease 2 class of disease familial bicuspid aortic valve autosomal dominant disease bicuspid aortic valve disease that has material basis in heterozygous mutation in the SMAD6 gene on chromosome 15q22
DOID:0080334
aortic valve insufficiency
class of disease aortic valve disease valve insufficiency disease
aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle
DOID:57
C14.280.484.095
Aortic valve insufficiency
aortic valve prolapse class of disease aortic valve disease heart valve prolapse Human disease
DOID:5232
C14.280.484.400.100
aortitis
class of disease aortic disease inflammation of the aortic wall
DOID:519
C14.907.109.320 C14.907.940.080
Aortitis
aphasia
class of disease symptom or sign
language disorder neurological symptom specific language impairment-5 disease
Inability to spoke
DOID:0060046
C10.597.606.150.500.800.100 C23.888.592.604.150.500.800.100
Aphasia
aphthous stomatitis
class of disease symptom or sign
clinical sign stomatitis lesions in mouth disease
stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers
DOID:9663
C07.465.864.750
Aphthous ulcer
apical granuloma
class of disease disease periapical periodontitis granuloma
tooth disease
DOID:4617
C07.320.830.700.740 C07.465.714.306.700.740 C07.465.714.533.487.740
apical myocardial infarction class of disease myocardial infarction
Human disease
DOID:5848
apocrine adenocarcinoma class of disease apocrine sweat gland cancer sweat gland carcinoma adenocarcinoma Apocrine gland carcinoma
apocrine sweat gland cancer that derives from epithelial cells of glandular origin
DOID:4933
apocrine adenoma class of disease apocrine sweat gland neoplasm Human disease
DOID:3895
apocrine adenosis of breast class of disease non-proliferative fibrocystic change of the breast Human disease
DOID:5999
apocrine sweat gland cancer class of disease sweat gland cancer apocrine sweat gland neoplasm Human disease
DOID:4934
apocrine sweat gland neoplasm class of disease sweat gland neoplasm apocrine sweat gland disease Human disease
DOID:5876
apolipoprotein C-3 deficiency class of disease cholesterol-ester transfer protein deficiency autosomal dominant disease human disease
DOID:0111370
appendiceal neoplasm class of disease intestinal neoplasm appendix disease cecal neoplasm intestinal benign neoplasm Human disease
DOID:11240
C04.588.274.476.411.184.290 C06.301.371.411.184.290 C06.405.249.411.184.290 C06.405.469.110.417.290 C06.405.469.491.184.290
Appendiceal neoplasms
appendix cancer
class of disease intestinal cancer appendiceal neoplasm appendix disease cancer that is located in the appendix
DOID:11239
Appendiceal cancer
appendix disease class of disease gastrointestinal system disease cecal disease gastrointestinal system disease that is located in the appendix
DOID:60000
Diseases and disorders of appendix
appendix lymphoma class of disease appendix cancer primary organ-specific lymphoma human disease
DOID:11241
apperceptive agnosia
class of disease visual agnosia agnosia
agnosia that is a loss of the ability to distinguish visual shapes
DOID:0060134
apple allergy class of disease fruit allergy
fruit allergy triggered by Malus domestica plant fruit food product.
DOID:0060504
apricot allergy class of disease fruit allergy
fruit allergy triggered by Prunus armeniaca plant fruit food product.
DOID:0060505
aqueous misdirection class of disease glaucoma
Human disease
DOID:11149
arcus senilis
class of disease corneal degeneration rare genetic eye disease genetic disease disease
Human disease
DOID:11342
C11.204.299.070
Arcus senilis
ariboflavinosis
class of disease nutritional deficiency disease vitamin deficiency vitamin B deficiency disease
Human disease
DOID:8454
C18.654.521.500.133.699.713
arrhythmogenic right ventricular dysplasia 1
class of disease arrhythmogenic right ventricular cardiomyopathy autosomal dominant disease arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24
DOID:0110070
arrhythmogenic right ventricular dysplasia 3 class of disease arrhythmogenic right ventricular cardiomyopathy autosomal dominant disease arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22
DOID:0110072
arrhythmogenic right ventricular dysplasia 4 class of disease arrhythmogenic right ventricular cardiomyopathy autosomal dominant disease An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
DOID:0110073
arrhythmogenic right ventricular dysplasia 6 class of disease arrhythmogenic right ventricular cardiomyopathy
arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12
DOID:0110075
arterial hypertension
class of disease symptom or sign
vascular disease artery disease clinical sign hypertension disease
long term medical condition with elevated arterial blood pressure
DOID:10763
C14.907.489
Hypertension
arteriolosclerosis
class of disease arteriosclerosis coronary artery disease
Human disease
DOID:5162
C14.907.137.126.056
Arteriolosclerosis
arteriosclerosis
class of disease artery disease disease
thickening, hardening and loss of elasticity of the walls of arteries
DOID:2349
C14.907.137.126
Atherosclerosis
arteriosclerosis obliterans
class of disease arteriosclerosis peripheral artery disease coronary artery disease
human disease
DOID:5160
C14.907.137.126.114
arteriosclerotic cardiovascular disease class of disease arteriosclerosis coronary artery disease
human disease
DOID:2348
arteritic anterior ischemic optic neuropathy
class of disease anterior ischemic optic neuropathy
Human disease
DOID:0050863
artery disease class of disease vascular disease
type of vascular disease
DOID:0050828
arthrogryposis multiplex congenita-4 class of disease autosomal recessive disease human disease
DOID:0080980
arthrogryposis, renal dysfunction, and cholestasis 1 class of disease arthrogryposis–renal dysfunction–cholestasis syndrome
human disease
DOID:0111353
arthrogryposis, renal dysfunction, and cholestasis 2 class of disease arthrogryposis–renal dysfunction–cholestasis syndrome
human disease
DOID:0111354
arthropathy
class of disease joint disorder bone disease disease
disease of a joint
DOID:381
C05.550
Arthropathies
arthus reaction
class of disease type III hypersensitivity
Human disease
DOID:1556
C20.543.520.100
articulation disorder class of disease speech disorder language disorder
speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand
DOID:4186
C10.597.606.150.500.800.150 C23.888.592.604.150.500.800.150
asbestos-related lung carcinoma class of disease lung carcinoma Human disease
DOID:7596
asbestosis
class of disease pneumoconiosis asbestos-related disease disease
pneumoconiosis caused by inhalation and retention of asbestos fibers
DOID:10320
C08.381.483.581.125 C08.381.520.702.125 C24.800.127
Asbestosis
ascending cholangitis
class of disease symptom or sign
non-neoplastic bile duct disorder inflammatory disease bile duct disease disease
bile duct disease that is an inflammation of the bile duct
DOID:9446
C06.130.120.200
Ascending cholangitis
ascending cholangitis class of disease ascending cholangitis
Human disease
DOID:14270
ascending colon cancer class of disease plump cancer Human disease
DOID:218
aseptic meningitis
class of disease meningitis non-infectious meningitis disease
meningitis caused by anything other than bacteria
DOID:12157
C10.586.625.220
aspergillosis
class of disease opportunistic mycosis disease
infectious disease of humans, birds and other animals
DOID:13564
C01.150.703.080
Aspergillosis
asphyxia neonatorum
class of disease respiratory disease perinatal respiratory disorder disease
Respiratory failure in the newborn. (Dorland, 27th ed)
DOID:11088
C16.614.092
asphyxiating thoracic dysplasia
class of disease osteochondrodysplasia autosomal recessive disease bone development disease human disease
DOID:0050592
Asphyxiating thoracic dysplasia
asphyxiating thoracic dystrophy 1 class of disease asphyxiating thoracic dysplasia autosomal recessive disease asphyxiating thoracic dystrophy associated with variation in the region 15q13
DOID:0110085
aspiration pneumonia
class of disease symptom or sign
bacterial pneumonia disease
bronchopneumonia that develops due to the entrance of foreign materials into the lungs
DOID:0050152
C08.381.677.529 C08.730.610.529
Aspiration pneumonia
aspiration pneumonitis
class of disease pneumonia aspiration pneumonia disease
chemical pneumonitis or aspiration pneumonitis caused by aspiration during anaesthesia, especially during pregnancy
DOID:3240
aspirin-induced respiratory disease class of disease intrinsic asthma salicylate sensitivity
human disease
DOID:0080822
associative agnosia
class of disease visual agnosia agnosia
agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them
DOID:0060136
astereognosia
class of disease agnosia tactile agnosia agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight
DOID:0060150
asthma
class of disease bronchospasm disease
long-term disease involving inflamed airways
DOID:2841
C08.127.108 C08.381.495.108 C08.674.095 C20.543.480.680.095
Asthma
astigmatism
class of disease symptom or sign
refractive error disease astigmatism
refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
DOID:11782
C11.744.212
Astigmatism (eye)
astroblastoma
class of disease astrocytoma
glial tumor derived from the astroblast, a type of cell that closely resembles spongioblastoma and astrocytes
DOID:7305
Astroblastoma
astrocytoma
class of disease glioma cerebrum cancer central nervous system cancer disease
type of cancer of the brain originating in a particular kind of glial cells, star-shaped brain cells in the cerebrum called astrocytes
DOID:3069
C04.557.465.625.600.380.080 C04.557.470.670.380.080 C04.557.580.625.600.380.080
Astrocytic tumors
asymmetric motor neuropathy class of disease motor neuritis Human disease
DOID:7559
asymptomatic dengue class of disease dengue fever asymptomatic disease A dengue disease that results in infection, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has no manifestations of symptoms.
DOID:0050143
asymptomatic neurosyphilis class of disease tertiary neurosyphilis tertiary neurosyphilis that results in mild meningitis
DOID:10035
asynchronous multifocal osteogenic sarcoma class of disease multifocal osteogenic sarcoma Human disease
DOID:6697
ataxia and polyneuropathy, adult-onset class of disease genetic disease mitochondrial disease
human disease
DOID:0111750
ataxia with oculomotor apraxia type 3 class of disease autosomal recessive cerebellar ataxia oculomotor apraxia spinocerebellar ataxia with axonal neuropathy type 2 human disease
DOID:0060557
ataxic cerebral palsy
class of disease cerebral palsy
A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
DOID:0050670
atheroembolism of kidney class of disease cholesterol embolism kidney disease
Human disease
DOID:1460
atherosclerosis
class of disease arteriosclerotic cardiovascular disease arteriosclerosis disease
human disease
DOID:1936
C14.907.137.126.307
Atherosclerosis
atopic dermatitis
class of disease symptom or sign
dermatitis allergic contact dermatitis disease
type of inflammation of the skin
DOID:3310
C16.320.850.210 C17.800.174.193 C17.800.815.193 C17.800.827.210 C20.543.480.343
Atopic dermatitis
atopic dermatitis 2 class of disease atopic dermatitis
atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21
DOID:0110098
atopic dermatitis 3 class of disease atopic dermatitis
atopic dermatitis associated with variation in the region 20p
DOID:0110099
atopic dermatitis 4 class of disease atopic dermatitis
An atopic dermatitis associated with variation in the region 17q25.3.
DOID:0110100
atopic dermatitis 5 class of disease atopic dermatitis
atopic dermatitis associated with variation in the region 13q12-q14
DOID:0110101
atopic dermatitis 6 class of disease atopic dermatitis
atopic dermatitis associated with variation in the region 5q31-q33
DOID:0110102
atopic dermatitis 7 class of disease atopic dermatitis
An atopic dermatitis associated with variation in the region 11q13.5.
DOID:0110103
atopic dermatitis 8 class of disease atopic dermatitis
An atopic dermatitis associated with variation in the region 4q22.1.
DOID:0110104
atopic dermatitis 9 class of disease atopic dermatitis
atopic dermatitis associated with variation in the region 3p24
DOID:0110105
atrial heart septal defect 1 class of disease atrial heart septal defect
atrial heart septal defect type 1 associated with variation in the region 5p
DOID:0110106
atrophic gastritis
class of disease gastritis chronic gastritis
Human disease
DOID:8929
C06.405.205.697.394 C06.405.748.398.394
Atrophic gastritis
atrophic muscular disease class of disease neuromuscular disease muscle tissue disease muscular disease
neuromuscular disease characterized by an abnormal reduction in the muscle volume and atrophy
DOID:913
C05.651.534 C10.668.491.175
atrophic nonflaccid tympanic membrane class of disease tympanic membrane disease Tympanic membrane retraction
Human disease
DOID:12546
atrophic vaginitis
class of disease vaginitis disease
inflammation of the vagina due to the thinning and shrinking of the tissues, as well as decreased lubrication
DOID:11968
C13.351.500.894.906.316
Atrophic vaginitis
atrophic vulva class of disease vulvar disease
Human disease
DOID:14275
atrophodermia vermiculata
class of disease keratosis pilaris atropicans
Dermatological condition
DOID:0080756
atrophy of prostate class of disease prostate disease Human disease
DOID:2301
atypical Gaucher's disease due to saposin c deficiency class of disease Gaucher's disease genetic disease
A Gaucher's disease that has material basis in an autosomal recessive mutation of PSAP on chromosome 10q22.1.
DOID:0110961
atypical autism
class of disease autism spectrum disorder pervasive developmental disorder disease
autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism
DOID:0060042
atypical breast papilloma class of disease breast duct papilloma Human disease
DOID:8227
atypical choroid plexus papilloma class of disease choroid plexus neoplasm papilloma cerebrovascular benign neoplasm Human disease
DOID:3544
atypical chronic myeloid leukemia
class of disease myelodysplastic/myeloproliferative neoplasm chronic myeloid leukemia
A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
DOID:0060597
C04.557.337.539.300 C15.378.190.615.500
atypical depressive disorder
class of disease mood disorder disease
depression characterized by improved mood in response to positive events
DOID:12294
Atypical depression
atypical follicular adenoma class of disease follicular adenoma Human disease
DOID:8292
atypical hereditary sensory neuropathy class of disease hereditary sensory and autonomic neuropathy
hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities
DOID:0070160
atypical lipomatous tumor class of disease liposarcoma
Human disease
DOID:5690
atypical neurofibroma class of disease neurofibroma
Human disease
DOID:5153
atypical polypoid adenomyoma
class of disease adenomyoma
Human disease
DOID:4993
auditory agnosia
class of disease agnosia music-specific disorders
agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal
DOID:0060137
auricular cancer class of disease ear neoplasms human disease
DOID:5101
autoimmune atherosclerosis class of disease autoimmune disease of cardiovascular system
autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries
DOID:0040096
autoimmune cardiomyopathy class of disease autoimmune disease of cardiovascular system heart disease immune disorder cardiomyopathy
autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle
DOID:0040095
autoimmune cholangitis class of disease autoimmune hepatitis ascending cholangitis
human disease
DOID:0080742
autoimmune disease
class of disease hypersensitivity disease immune disorder primary immunodeficiency disease
type of human disease
DOID:417
C20.111
Autoimmune diseases and disorders
autoimmune disease of blood class of disease autoimmune disease
hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood
DOID:0060050
autoimmune disease of cardiovascular system
class of disease autoimmune disease cardiovascular disease
hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
DOID:0060051
autoimmune disease of central nervous system class of disease autoimmune disease of the nervous system central nervous system disease
autoimmune disease of the central nervous system
DOID:0060004
autoimmune disease of endocrine system class of disease autoimmune disease endocrine system disease
hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system
DOID:0060005
autoimmune disease of exocrine system class of disease autoimmune disease
immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system
DOID:0060029
autoimmune disease of eyes, ear, nose and throat class of disease autoimmune disease of the nervous system sensory system disease hypersensitivity reaction type II disease of the eyes, ears, nose and throat
DOID:0060030
autoimmune disease of gastrointestinal tract class of disease autoimmune disease gastrointestinal system disease
hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract
DOID:0060031
autoimmune disease of musculoskeletal system class of disease autoimmune disease musculoskeletal disorder
autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system
DOID:0060032
autoimmune disease of peripheral nervous system class of disease autoimmune disease of the nervous system peripheral neuropathy
autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system
DOID:0060033
autoimmune disease of the nervous system class of disease autoimmune disease nervous system disease neurological disorder
A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.
DOID:438
C10.114 C20.111.258
autoimmune disease of urogenital tract class of disease autoimmune disease reproductive system disease urinary system disease
hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract
DOID:0060049
autoimmune gastritis class of disease autoimmune disease of gastrointestinal tract stomach disease gastritis
autoimmune disease of gastrointestinal tract that is located in the stomach
DOID:0040090
autoimmune glomerulonephritis class of disease autoimmune disease of urogenital tract immune disorder rare urogenital disease glomerulonephritis
human disease
DOID:0040094
autoimmune myocarditis class of disease autoimmune cardiomyopathy myocarditis autoimmune disease of cardiovascular system
DOID:0080767
autoimmune neuropathy class of disease autoimmune disease of central nervous system autoimmune disease of centreal nervous system caused by an autoimmune response
DOID:0060499
autoimmune optic neuritis class of disease autoimmune disease of peripheral nervous system optic neuritis
autoimmune disease of peripheral nervous system that is located in the neuron projection bundle connecting eye with brain
DOID:0040089
autoimmune pancreatitis
class of disease chronic pancreatitis IgG4-related disease autoimmune disease of endocrine system pancreas disease
type of chronic pancreatitis
DOID:0040091
C06.689.750.830.500 C20.111.296 C23.550.291.500.750.500
autoimmune peripheral neuropathy class of disease autoimmune disease of peripheral nervous system autoimmune disease of peripheral nervous system that results in peripheral neuropathy
DOID:0040087
autoimmune polyendocrine syndrome
class of disease autoimmune disease of endocrine system polyglandular dysfunction disease
autoimmune disease of endocrine system with auto-reactivity against endocrine organs
DOID:14040
C19.787 C20.111.750
autoimmune polyendocrine syndrome type 2
class of disease autoimmune polyendocrine syndrome
An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
DOID:0050168
autoimmune skin disease class of disease autoimmune disease skin disease rheumatic disease cellulitis rare skin disease immune disorder autoimmune disease of musculoskeletal system connective tissue disease
hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue
DOID:0060039
autoimmune thyroiditis
class of disease autoimmune disease of endocrine system thyroiditis disease
autoimmune disease of endocrine system that involves inflammation located in thyroid gland caused by the immune system reacting against its own tissues
DOID:7188
C19.874.871.102 C20.111.809
autoimmune vasculitis class of disease autoimmune disease of cardiovascular system immune disorder vasculitis
autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels
DOID:0040097
autonomic nervous system benign neoplasm class of disease peripheral nervous system benign neoplasm autonomic nervous system neoplasm human disease
DOID:0080321
autonomic nervous system disease class of disease peripheral neuropathy
human disease
DOID:11465
Diseases and disorders of autonomic nervous system
autonomic nervous system neoplasm class of disease peripheral nervous system neoplasm autonomic nervous system disease peripheral nervous system neoplasm that is located in the autonomic nervous system
DOID:2621
autonomic neuropathy
class of disease autonomic nervous system disease polyneuropathy
human disease
DOID:11504
autonomic peripheral neuropathy class of disease peripheral neuropathy autonomic neuropathy
Human disease
DOID:0060054
autosomal dominant Aarskog syndrome class of disease Aarskog syndrome autosomal dominant disease human disease
DOID:0111825
autosomal dominant Emery-Dreifuss muscular dystrophy 2 class of disease Emery-Dreifuss muscular dystrophy autosomal dominant disease Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of LMNA on chromosome 1q22
DOID:0070247
autosomal dominant Emery-Dreifuss muscular dystrophy 4 class of disease Emery-Dreifuss muscular dystrophy autosomal dominant disease An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.
DOID:0070249
autosomal dominant Emery-Dreifuss muscular dystrophy 5 class of disease Emery-Dreifuss muscular dystrophy autosomal dominant disease An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.
DOID:0070250
autosomal dominant Emery-Dreifuss muscular dystrophy 7 class of disease Emery-Dreifuss muscular dystrophy autosomal dominant disease An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1.
DOID:0070252
autosomal dominant Kenny-Caffey syndrome class of disease Kenny-Caffey syndrome autosomal dominant disease human disease
DOID:0080723
autosomal dominant Parkinson disease 1 class of disease hereditary late onset Parkinson disease autosomal dominant disease human disease
DOID:0060367
autosomal dominant Parkinson's disease 22 class of disease autosomal dominant disease hereditary late onset Parkinson disease A late onset Parkinson's disease that has material basis in heterozygous mutation in the CHCHD2 gene on chromosome 7p11.2
DOID:0080504
autosomal dominant Wolfram syndrome class of disease Wolfram syndrome autosomal dominant disease Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has material basis in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16
DOID:0080584
autosomal dominant centronuclear myopathy class of disease centronuclear myopathy
centronuclear myopathy that has material basis in autosomal dominant inheritance
DOID:0111217
autosomal dominant chondrodysplasia punctata class of disease chondrodysplasia punctata autosomal dominant disease Human disease
DOID:0060293
autosomal dominant craniodiaphyseal dysplasia class of disease autosomal dominant disease craniodiaphyseal dysplasia
human disease
DOID:0080807
autosomal dominant craniometaphyseal dysplasia class of disease autosomal dominant disease craniometaphyseal dysplasia
human disease
DOID:0080801
autosomal dominant cutis laxa class of disease cutis laxa autosomal dominant disease cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity
DOID:0070142
autosomal dominant cutis laxa 1 class of disease autosomal dominant cutis laxa autosomal dominant cutis laxa that has material basis in heterozygous mutations in the ELN gene on chromosome 7q11
DOID:0070130
autosomal dominant cutis laxa 2 class of disease autosomal dominant cutis laxa autosomal dominant cutis laxa that has material basis in heterozygous mutation in the FBLN5 gene on chromosome 14q32
DOID:0070136
autosomal dominant disease class of disease autosomal genetic disease genetic disease characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease
DOID:0050736
autosomal dominant distal hereditary motor neuropathy class of disease Distal hereditary motor neuropathies spinal muscular atrophy autosomal dominant disease Autosomal dominant form of distal hereditary motor neuropathy
DOID:0111198
autosomal dominant dyskeratosis congenita 1 class of disease dyskeratosis congenita autosomal dominant disease A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.
DOID:0070014
autosomal dominant dyskeratosis congenita 2 class of disease dyskeratosis congenita autosomal dominant disease A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.
DOID:0070016
autosomal dominant dyskeratosis congenita 3 class of disease dyskeratosis congenita autosomal dominant disease dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12
DOID:0070018
autosomal dominant dyskeratosis congenita 4 class of disease dyskeratosis congenita autosomal dominant disease A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
DOID:0070020
autosomal dominant dyskeratosis congenita 6 class of disease dyskeratosis congenita autosomal dominant disease A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.
DOID:0070023
autosomal dominant hyaline body myopathy class of disease hyaline body myopathy autosomal dominant disease A hyaline body myopathy that has material basis in heterozygous mutation in MYH7 on 14q11.2.
DOID:0111269
autosomal dominant hypocalcemia class of disease hypocalcaemia autosomal dominant disease metal metabolism disorder
calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone
DOID:0090109
autosomal dominant keratitis-ichthyosis-deafness syndrome class of disease autosomal dominant disease keratitis–ichthyosis–deafness syndrome syndrome
autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q
DOID:0060871
autosomal dominant limb-girdle muscular dystrophy type 1 class of disease autosomal dominant limb-girdle muscular dystrophy autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36
DOID:0110305
autosomal dominant limb-girdle muscular dystrophy type 1H class of disease autosomal dominant limb-girdle muscular dystrophy An autosomal dominant limb-girdle muscular dystrophy that has material basis in with variation in the region 3p25.1-p23.
DOID:0110303
autosomal dominant mental retardation 45 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080236
autosomal dominant mental retardation 46 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080237
autosomal dominant mental retardation 47 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080238
autosomal dominant mental retardation 48 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080235
autosomal dominant mental retardation 49 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080234
autosomal dominant mental retardation 50 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080233
autosomal dominant mental retardation 51 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080232
autosomal dominant mental retardation 52 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080231
autosomal dominant mental retardation 53 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080228
autosomal dominant mental retardation 54 class of disease autosomal dominant non-syndromic intellectual disability human disease
DOID:0080230
autosomal dominant mental retardation 55 class of disease autosomal dominant disease syndromic intellectual disability human disease
DOID:0080227
autosomal dominant mental retardation 56 class of disease autosomal dominant disease syndromic intellectual disability human disease
DOID:0080226
autosomal dominant microcephaly class of disease autosomal dominant disease microcephaly
human disease
DOID:14725
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques class of disease autosomal dominant disease Olmsted syndrome
human disease
DOID:0112013
autosomal dominant nocturnal frontal lobe epilepsy 1 class of disease autosomal dominant nocturnal frontal lobe epilepsy
autosomal dominant nocturnal frontal lobe epilepsy that has material basis in heterozygous mutation in the CHRNA4 gene on chromosome 20q13
DOID:0060682
autosomal dominant nocturnal frontal lobe epilepsy 2 class of disease autosomal dominant nocturnal frontal lobe epilepsy
autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24
DOID:0060683
autosomal dominant nocturnal frontal lobe epilepsy 5 class of disease autosomal dominant nocturnal frontal lobe epilepsy
autosomal dominant nocturnal frontal lobe epilepsy that has material basis in heterozygous mutation in the KCNT1 gene on chromosome 9q34
DOID:0060686
autosomal dominant non-syndromic intellectual disability 1 class of disease autosomal dominant non-syndromic intellectual disability An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MBD5 on chromosome 2q23.1.
DOID:0070031
autosomal dominant non-syndromic intellectual disability 2 class of disease autosomal dominant non-syndromic intellectual disability autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DOCK8 on chromosome 9p24
DOID:0070032
autosomal dominant nonsyndromic deafness 1 class of disease autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has material basis in mutation in the DIAPH1 gene on chromosome 5q31
DOID:0110541
autosomal dominant nonsyndromic deafness 18 class of disease autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22
DOID:0110549
autosomal dominant nonsyndromic deafness 30 class of disease autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26
DOID:0110560
autosomal dominant nonsyndromic deafness 33 class of disease autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34
DOID:0110562
autosomal dominant nonsyndromic deafness 47 class of disease autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21
DOID:0110570
autosomal dominant nonsyndromic deafness 52 class of disease autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.
DOID:0110578
autosomal dominant nonsyndromic deafness 71 class of disease autosomal dominant nonsyndromic deafness human disease
DOID:0080267
autosomal dominant nonsyndromic deafness 72 class of disease autosomal dominant nonsyndromic deafness human disease
DOID:0080268
autosomal dominant nonsyndromic deafness 77 class of disease autosomal dominant nonsyndromic deafness human disease
DOID:0112168
autosomal dominant nonsyndromic deafness 79 class of disease autosomal dominant nonsyndromic deafness human disease
DOID:0112160
autosomal dominant optic atrophy and cataract class of disease autosomal dominant optic atrophy optic atrophy autosomal dominant disease gene (19q13.32).
DOID:0111433
autosomal dominant optic atrophy plus syndrome class of disease autosomal dominant optic atrophy syndrome autosomal dominant disease human disease
DOID:0111340
autosomal dominant osteopetrosis 1 class of disease osteopetrosis autosomal dominant disease human disease
DOID:0110937
autosomal dominant progressive external ophthalmoplegia 1 class of disease autosomal dominant disease chronic progressive external ophthalmoplegia
human disease
DOID:0111521
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 class of disease autosomal dominant disease chronic progressive external ophthalmoplegia
human disease
DOID:0111519
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 class of disease chronic progressive external ophthalmoplegia autosomal dominant disease human disease
DOID:0111517
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 class of disease autosomal dominant disease chronic progressive external ophthalmoplegia
human disease
DOID:0111520
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 class of disease chronic progressive external ophthalmoplegia autosomal dominant disease human disease
DOID:0111525
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 class of disease chronic progressive external ophthalmoplegia autosomal dominant disease human disease
DOID:0111518
autosomal dominant sensory ataxia 1 class of disease hereditary ataxia autosomal dominant disease human disease
DOID:0111170
autosomal dominant severe congenital neutropenia class of disease severe congenital neutropenia autosomal dominant disease human disease
DOID:0112130
autosomal dominant spondyloepiphyseal dysplasia tarda class of disease autosomal dominant disease spondyloepiphyseal dysplasia tarda human disease
DOID:0112285
autosomal dominant thrombophilia due to protein C deficiency class of disease protein C deficiency
human disease
DOID:0111909
autosomal dominant woolly hair class of disease woolly hair autosomal dominant disease human disease
DOID:0111573
autosomal genetic disease class of disease monogenic disease monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes
DOID:0050739
Autosomal diseases
autosomal hemophilia A class of disease blood coagulation disease autosomal genetic disease hemophilia A
human disease
DOID:0111823
autosomal recessive Alport syndrome class of disease Alport syndrome autosomal recessive disease Alport syndrome that has material -basis in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q
DOID:0110033
autosomal recessive Kenny-Caffey syndrome class of disease Kenny-Caffey syndrome autosomal recessive disease human disease
DOID:0080722
autosomal recessive Robinow syndrome class of disease Robinow syndrome autosomal recessive disease Human disease
DOID:0060764
autosomal recessive centronuclear myopathy class of disease centronuclear myopathy autosomal recessive disease inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy
DOID:0111216
autosomal recessive chronic granulomatous disease cytochrome b-negative class of disease autosomal recessive disease chronic granulomatous disease
A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the CYBA gene on chromosome 16q24.2.
DOID:0070193
autosomal recessive chronic granulomatous disease cytochrome b-positive type I class of disease chronic granulomatous disease autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the NCF1 gene on chromosome 7q11.23.
DOID:0070192
autosomal recessive chronic granulomatous disease cytochrome b-positive type II class of disease autosomal recessive disease chronic granulomatous disease
chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the NCF2 gene on chromosome 1q25
DOID:0070191
autosomal recessive chronic granulomatous disease cytochrome b-positive type III class of disease autosomal recessive disease chronic granulomatous disease
chronic granulomatous disease characterized by that autosomal recessive inheritance has material basis in mutation in the NCF4 gene on chromosome 22q12
DOID:0070194
autosomal recessive congenital bilateral absence of vas deferens class of disease autosomal recessive disease congenital bilateral aplasia of the vas deferens human disease
DOID:0111864
autosomal recessive congenital ichthyosis class of disease autosomal recessive disease congenital ichthyosis skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization
DOID:0060655
autosomal recessive congenital ichthyosis 1 class of disease autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
DOID:0060656
autosomal recessive congenital ichthyosis 13 class of disease autosomal recessive congenital ichthyosis human disease
DOID:0080257
autosomal recessive congenital ichthyosis 14 class of disease autosomal recessive congenital ichthyosis human disease
DOID:0080258
autosomal recessive congenital ichthyosis 7 class of disease autosomal recessive congenital ichthyosis Human disease
DOID:0060716
autosomal recessive craniometaphyseal dysplasia class of disease autosomal recessive disease craniometaphyseal dysplasia
human disease
DOID:0080802
autosomal recessive cutis laxa type 2, classic type class of disease cutis laxa autosomal recessive disease autosomal recessive cutis laxa type 2 cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia
DOID:0070141
autosomal recessive cutis laxa type I class of disease cutis laxa autosomal recessive disease cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems
DOID:0070144
autosomal recessive cutis laxa type IA class of disease autosomal recessive cutis laxa type I autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32
DOID:0070135
autosomal recessive cutis laxa type IB class of disease autosomal recessive cutis laxa type I human disease
DOID:0070133
autosomal recessive cutis laxa type IC class of disease autosomal recessive cutis laxa type I autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
DOID:0070139
autosomal recessive cutis laxa type IIA class of disease autosomal recessive cutis laxa type 2, classic type autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24
DOID:0070134
autosomal recessive cutis laxa type IIB class of disease cutis laxa autosomal recessive disease autosomal recessive cutis laxa type 2 A cutis laxa characterized by progeroid features that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
DOID:0070137
autosomal recessive cutis laxa type IIIA class of disease De Barsy syndrome
human disease
DOID:0070132
autosomal recessive cutis laxa type IIIB class of disease De Barsy syndrome
autosomal recessive cutis laxa type III that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25
DOID:0070138
autosomal recessive disease class of disease autosomal genetic disease disease
genetic disease characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop
DOID:0050737
Autosomal recessive diseases
autosomal recessive distal hereditary motor neuronopathy class of disease autosomal recessive disease spinal muscular atrophy
spinal muscular atrophy that has material basis in autosomal recessive inheritance
DOID:0111197
autosomal recessive dyskeratosis congenita 4 class of disease dyskeratosis congenita autosomal recessive disease A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.
DOID:0070021
autosomal recessive dyskeratosis congenita 5 class of disease dyskeratosis congenita autosomal recessive disease A dyskeratosis congenita that has material basis in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33.
DOID:0070022
autosomal recessive dyskeratosis congenita 6 class of disease dyskeratosis congenita autosomal recessive disease human disease
DOID:0070024
autosomal recessive early-onset Parkinson disease 23 class of disease young-onset Parkinson disease autosomal recessive disease early-onset Parkinson disease that has material basis in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22
DOID:0060896
autosomal recessive hyaline body myopathy class of disease hyaline body myopathy autosomal recessive disease A hyaline body myopathy that has material basis in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.
DOID:0111268
autosomal recessive intellectual developmental disorder-72 class of disease syndromic intellectual disability human disease
DOID:0080765
autosomal recessive isolated ectopia lentis 2
class of disease isolated ectopia lentis autosomal recessive disease isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21
DOID:0111149
autosomal recessive limb-girdle muscular dystrophy class of disease limb-girdle muscular dystrophy autosomal recessive disease limb-girdle muscular dystrophy has material basis in autosomal recessive inheritance
DOID:0110274
autosomal recessive limb-girdle muscular dystrophy type 2B class of disease autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13
DOID:0110276
autosomal recessive limb-girdle muscular dystrophy type 2C class of disease autosomal recessive limb-girdle muscular dystrophy sarcoglycanopathy qualitative or quantitative defects of gamma-sarcoglycan neuromuscular disease with dilated cardiomyopathy autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12
DOID:0110277
autosomal recessive limb-girdle muscular dystrophy type 2Z class of disease disorder of O-xylosylglycan synthesis autosomal recessive limb-girdle muscular dystrophy An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
DOID:0080762
autosomal recessive nonsyndromic deafness 100 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111638
autosomal recessive nonsyndromic deafness 106 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0080261
autosomal recessive nonsyndromic deafness 107 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0080262
autosomal recessive nonsyndromic deafness 108 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0080263
autosomal recessive nonsyndromic deafness 109 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111639
autosomal recessive nonsyndromic deafness 110 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111644
autosomal recessive nonsyndromic deafness 111 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111640
autosomal recessive nonsyndromic deafness 112 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111637
autosomal recessive nonsyndromic deafness 113 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111636
autosomal recessive nonsyndromic deafness 114 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111642
autosomal recessive nonsyndromic deafness 115 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111643
autosomal recessive nonsyndromic deafness 1A class of disease autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in the GJB2 gene on chromosome 13q12
DOID:0110475
autosomal recessive nonsyndromic deafness 27 class of disease autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31
DOID:0110485
autosomal recessive nonsyndromic deafness 4 class of disease autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22
DOID:0110498
autosomal recessive nonsyndromic deafness 40 class of disease autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.
DOID:0110499
autosomal recessive nonsyndromic deafness 5 class of disease autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12
DOID:0110507
autosomal recessive nonsyndromic deafness 57 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111635
autosomal recessive nonsyndromic deafness 94 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111641
autosomal recessive nonsyndromic deafness 99 class of disease autosomal recessive nonsyndromic deafness human disease
DOID:0111634
autosomal recessive osteopetrosis 1 class of disease osteopetrosis autosomal recessive disease An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.
DOID:0110942
autosomal recessive osteopetrosis 3 class of disease osteopetrosis autosomal recessive disease renal tubular acidosis
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21
DOID:0110941
autosomal recessive pericentral pigmentary retinopathy class of disease retinitis pigmentosa autosomal recessive disease retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy
DOID:0110422
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 class of disease autosomal recessive disease chronic progressive external ophthalmoplegia
human disease
DOID:0111515
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 class of disease chronic progressive external ophthalmoplegia autosomal recessive disease human disease
DOID:0111523
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 class of disease chronic progressive external ophthalmoplegia autosomal recessive disease human disease
DOID:0111516
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 class of disease autosomal recessive disease chronic progressive external ophthalmoplegia
human disease
DOID:0111524
autosomal recessive pseudohypoaldosteronism type 1 class of disease pseudohypoaldosteronism autosomal recessive disease human disease
DOID:0060854
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 class of disease pyridoxine-refractory autosomal recessive sideroblastic anemia autosomal recessive disease sideroblastic anaemia P
sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32
DOID:0080343
autosomal recessive spinocerebellar ataxia 23 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111613
autosomal recessive spinocerebellar ataxia 24 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111615
autosomal recessive spinocerebellar ataxia 27 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111616
autosomal recessive spinocerebellar ataxia 3 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111612
autosomal recessive spinocerebellar ataxia 4 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111611
autosomal recessive spinocerebellar ataxia 6 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111617
autosomal recessive spinocerebellar ataxia 8 class of disease autosomal recessive cerebellar ataxia
human disease
DOID:0111618
autosomal recessive spondyloepiphyseal dysplasia tarda class of disease spondyloepiphyseal dysplasia tarda autosomal recessive disease human disease
DOID:0112293
autosomal recessive type IV Ehlers-Danlos syndrome class of disease Ehlers-Danlos syndrome autosomal recessive disease Human disease
DOID:14759
autosomal-mitochondrial sensorineural deafness class of disease digenic disease sensorineural hearing loss
human disease
DOID:0111752
autotopagnosia
class of disease agnosia
form of agnosia
DOID:0060138
avoidant personality disorder
class of disease personality disorder disease
severe form of social anxiety
DOID:1509
Avoidant personality disorder
axial osteomalacia
class of disease osteosclerosis osteomalacia genetic disease
osteosclerosis that results in coarsening located in trabecular bone
DOID:0080039
axillary adentis class of disease lymphadenitis Human disease
DOID:4640
axonal neuropathy class of disease peripheral neuropathy
Human disease
DOID:7319
azoospermia
class of disease male infertility oligospermia disease
male infertility disease characterized by the absence of any measurable level of sperm in semen
DOID:14227
C12.200.294.430.380 C12.100.500.430.380 C12.100.750.700.380
Azoospermia
aztreonam allergy class of disease beta-lactam allergy beta-lactam allergy that has allergic trigger aztreonam
DOID:0040037
bacillary angiomatosis
class of disease bartonellosis angiomatosis disease
human disease
DOID:0060345
C01.150.252.400.126.100.075 C01.150.252.819.150 C01.800.720.150 C14.907.077.060 C17.800.838.765.150 C17.800.862.060
background diabetic retinopathy class of disease diabetic retinopathy
Human disease
DOID:13208
bacterial esophagitis class of disease esophagitis bacterial infectious disease An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.
DOID:13921
bacterial gastritis class of disease gastritis bacterial infectious disease chronic gastritis
Gastritis resulting from bacteria
DOID:4033
bacterial sepsis class of disease bacterial infectious disease sepsis
bacterial infectious disease has material basis in Bacteria
DOID:0040085
bacteriuria
class of disease urinary system disease disease
medical term denoting the presence of bacteria in urine
DOID:1412
C01.915.219 C12.200.777.892.219 C12.050.351.968.892.219 C12.950.892.219
bagassosis
class of disease extrinsic allergic alveolitis
silicosis
DOID:12522
balanitis
class of disease symptom or sign
penile disease inflammatory disease disease
infectious or non-infectious inflammation of the glans penis
DOID:13033
C12.294.494.136
Balanitis
File:Inflammation of the glans penis and the preputial mucosa.jpg
balanitis xerotica obliterans
class of disease balanitis
Human disease
DOID:13477
C12.294.494.136.500
Balanitis xerotica obliterans
balanoposthitis
class of disease penile disease balanitis posthitis
human disease
DOID:13031
Balanoposthitis
baldness
class of disease hair diseases hairstyle hair anomaly absence disease
state where most or all of hair from the head has been lost or intentionally removed
DOID:987
Baldness
balloon cell malignant melanoma class of disease skin melanoma Human disease
DOID:10044
band keratopathy
class of disease corneal degeneration Human disease
DOID:11164
Band keratopathy
barbiturate abuse class of disease substance abuse
substance abuse that involves the recurring use of barbiturate drugs despite negative consequences
DOID:8519
barbiturate dependence
class of disease barbiturate abuse substance dependence
drug dependence that involves the continued use of barbiturates despite problems related to use of the substance
DOID:2575
basal ganglia cerebrovascular disease class of disease basal ganglia disease cerebrovascular disease
Human disease
DOID:10991
C10.228.140.079.127 C10.228.140.300.100 C14.907.253.061
basal ganglia disease
class of disease encephalopathy
brain disease that is characterized by dysfunction of the basal ganglia which help start and control movement
DOID:679
C10.228.140.079
basal-cell carcinoma
class of disease skin cancer skin carcinoma basal-cell neoplasm disease
subtype of basal-cell carcinoma most commonly occurring on the sun-exposed areas of the head and neck
DOID:2513
C04.557.470.200.165 C04.557.470.565.165
Basal-cell carcinoma
basaloid large cell carcinoma of the lung
class of disease large-cell lung carcinoma squamous cell carcinoma of the lung basaloid carcinoma human disease
DOID:7045
basaloid squamous cell carcinoma class of disease squamous cell carcinoma basaloid carcinoma basal-cell carcinoma
Human disease
DOID:5522
basaloid squamous cell skin carcinoma class of disease basaloid squamous cell carcinoma keratinizing squamous cell carcinoma skin cancer squamous cell carcinoma
Human disease
DOID:7049
basidiobolomycosis
class of disease subcutaneous mycosis zygomycosis
Human disease
DOID:0050278
basilar artery insufficiency class of disease transient cerebral isolation vertebrobasilar insufficiency syndrome artery disease human disease
DOID:223
basilar artery occlusion class of disease occlusion precerebral artery artery disease Human disease
DOID:13446
basosquamous carcinoma class of disease basal-cell carcinoma
Human disease
DOID:5063
C04.557.470.200.170 C04.557.470.565.170
baylisascariasis class of disease parasitic helminthiasis infectious disease spinal cord disease eye disease intestinal disease encephalopathy
Human disease
DOID:0050259
benign adult familial myoclonic epilepsy class of disease myoclonic epilepsy adolescence-adult electroclinical syndrome human disease
DOID:0111689
benign blood vessel neoplasm class of disease vascular neoplasm cardiovascular organ benign neoplasm benign neoplasm arising from arteries or veins
DOID:60006
Benign vascular neoplasms
benign breast adenomyoepithelioma class of disease breast benign neoplasm Human disease
DOID:1641
benign breast phyllodes tumor class of disease breast benign neoplasm phyllodes tumor
Human disease
DOID:1631
benign deep fibrous histiocytoma class of disease immune system organ benign neoplasm sclerosing hemangioma
Human disease
DOID:4419
benign dermal neurilemmoma class of disease skin benign neoplasm Human disease
DOID:7181
benign eccrine breast spiradenoma class of disease breast benign neoplasm Human disease
DOID:1616
benign ependymoma class of disease benign glioma ependymoma
human disease
DOID:4844
benign epilepsy with centrotemporal spikes
class of disease childhood electroclinical syndrome epilepsy syndrome
the most common epilepsy syndrome in childhood which usually subsides with age
DOID:3329
C10.228.140.490.360.280 C10.228.140.490.493.250
benign essential hypertension
class of disease essential hypertension
Human disease
DOID:10913
benign fibrous mesothelioma class of disease benign mesothelioma solitary fibrous tumor of the pleura
human disease
DOID:2653
C04.557.450.565.590.797.750 C04.588.894.797.640.800
benign hypertensive renal disease class of disease renal hypertension Human disease
DOID:11520
benign intermediate mesothelioma class of disease benign mesothelioma human disease
DOID:5884
benign lymphoepithelial lesion of salivary gland class of disease salivary gland disease disease
Human disease
DOID:12899
benign mammary dysplasia class of disease breast benign neoplasm Human disease
DOID:9504
Benign mammary dysplasias
benign mastocytoma class of disease benign neoplasms by histologic type human disease
DOID:4658
benign mediastinal neurilemmoma class of disease benign neurilemmoma mediastinal neurilemmoma benign neoplasm of mediastinum Human disease
DOID:7922
benign mediastinal psammomatous neurilemmoma class of disease benign mediastinal neurilemmoma Human disease
DOID:7921
benign meningioma class of disease meningioma benign neoplasm of meninges central nervous system organ benign neoplasm Human disease
DOID:4587
benign mesothelioma class of disease angiomyolipoma
cell type benign neoplasm that has material basis in mesothelium
DOID:2645
benign neonatal seizures
class of disease neonatal period electroclinical syndrome Human disease
DOID:14264
C10.228.140.490.370 C16.614.258
benign neoplasm
class of disease disease of cellular proliferation neoplasm disease
disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize
DOID:0060072
Benign neoplasms
benign neoplasm of exocrine pancreas class of disease pancreatic exocrine neoplasm benign neoplasm of pancreas endocrine organ benign neoplasm benign neoplasm that involves the exocrine pancreas
DOID:0080781
benign neoplasm of lymph node class of disease lymph node neoplasm immune system organ benign neoplasm benign neoplasm that involves the lymph node
DOID:0080617
Benign neoplasms of lymph nodes
benign neoplasms by histologic type class of disease benign neoplasm neoplasms by histologic type benign neoplasm that is classified by the type of cell or tissue from which it is derived
DOID:0060084
benign neurilemmoma class of disease neurilemmoma
Human disease
DOID:955
benign ovarian sex cord-stromal tumor class of disease ovarian sex cord-stromal tumor sex cord-stromal benign neoplasm sex cord-stromal tumor arising from the ovary, without metastatic potential
DOID:0080370
benign parathyroid gland neoplasm class of disease parathyroid neoplasm endocrine organ benign neoplasm parathyroid gland disease
benign neoplasm that involves the parathyroid gland
DOID:60008
Benign neoplasms of parathyroid gland
benign paroxysmal positional nystagmus
class of disease peripheral vertigo disease
human disease
DOID:13941
C09.218.568.900.883.500 C10.597.951.500 C23.888.592.958.500
benign pericardial teratoma class of disease mature teratoma benign neoplasm of pericardium rare circulatory system disease cardiovascular organ benign neoplasm pericardium disease Human disease
DOID:8012
benign peritoneal mesothelioma class of disease peritoneal benign neoplasm human disease
DOID:1789
benign perivascular tumor class of disease cardiovascular organ benign neoplasm perivascular tumor Human disease
DOID:5238
benign pleural mesothelioma class of disease pleural cancer respiratory system benign neoplasm pleural disease benign neoplasms by histologic type human disease
DOID:5157
benign prostate phyllodes tumor class of disease male reproductive organ benign neoplasm prostate phyllodes tumor Human disease
DOID:2885
benign recurrent intrahepatic cholestasis 1 class of disease benign recurrent intrahepatic cholestasis autosomal recessive disease benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has material basis in mutation in the ATP8B1 gene on chromosome 18q
DOID:0070231
benign recurrent intrahepatic cholestasis 2 class of disease benign recurrent intrahepatic cholestasis autosomal recessive disease benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31
DOID:0070232
benign renovascular hypertension class of disease benign secondary hypertension renal hypertension renovascular hypertension
Human disease
DOID:13145
benign secondary hypertension class of disease secondary hypertension
Human disease
DOID:13143
benign shuddering attacks class of disease movement disorders myoclonus
Human disease
DOID:1713
benign struma ovarii class of disease struma ovarii ovarian benign neoplasm Human disease
DOID:5209
benign teratoma class of disease germ cell benign neoplasm human disease
DOID:0080602
benign vaginal carcinosarcoma class of disease vaginal benign neoplasm Human disease
DOID:135
benzo[d]isothiazol-3-one allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger benzo[d]isothiazol-3-one
DOID:0040075
benzoic acid allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger benzoic acid
DOID:0040057
benzylpenicillin allergy class of disease beta-lactam allergy beta-lactam allergy that has allergic trigger benzylpenicillin
DOID:0040003
beriberi
class of disease nutritional deficiency disease thiamine deficiency disease
nutritional thiamine deficiency disease in humans
DOID:13725
C18.654.521.500.133.699.827.223
Beriberi
berylliosis
class of disease pneumoconiosis occupational lung disease Beryllium poisoning respiratory allergy disease
pneumoconiosis that involves allergic response located in lungs caused by inhalation of beryllium compounds
DOID:10322
C08.381.483.581.225 C08.381.520.702.225 C24.800.225
Berylliosis
beta-lactam allergy class of disease drug allergy
drug allergy triggered by a beta-lactam
DOID:0060519
beta-thalassemia intermedia class of disease beta thalassemia
Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion
DOID:0080772
beta-thalassemia major class of disease beta thalassemia
Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions
DOID:0080771
bicipital tenosynovitis
class of disease tenosynovitis
Human disease
DOID:14192
bilateral breast cancer class of disease breast carcinoma breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times
DOID:6741
bilateral frontoparietal polymicrogyria class of disease autosomal recessive disease human disease
DOID:0080922
bilateral hyperactive labyrinth class of disease labyrinthine dysfunction Human disease
DOID:14165
bilateral optic nerve hypoplasia class of disease autosomal dominant disease optic nerve disease optic nerve hypoplasia
human disease
DOID:0111531
bilateral renal aplasia class of disease renal agenesis
renal agenesis that is characterized by the absence of both kidneys at birth
DOID:0080200
bile duct adenocarcinoma class of disease bile duct carcinoma adenocarcinoma of liver and intrahepatic biliary tract adenocarcinoma
bile duct carcinoma that derives from epithelial cells of glandular origin
DOID:4896
bile duct adenoma class of disease liver neoplasm biliary tract neoplasm bile duct disease gastrointestinal adenoma benign neoplasms by histologic type adenoma
adenoma and biliary tract cancer that results in a small firm white nodule with multiple bile ducts that are located in a fibrous stroma
DOID:5381
C04.557.470.035.085
bile duct cancer class of disease biliary tract cancer bile duct neoplasm bile duct disease biliary tract cancer that is located in the bile duct
DOID:4606
bile duct carcinoma class of disease bile duct cancer carcinoma
bile duct cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:4897
bile duct carcinoma in situ class of disease in situ carcinoma biliary tract neoplasm bile duct disease Human disease
DOID:0050613
bile duct clear cell adenocarcinoma class of disease bile duct adenocarcinoma clear cell adenocarcinoma extrahepatic bile duct adenocarcinoma Human disease
DOID:7032
bile duct cystadenocarcinoma class of disease bile duct adenocarcinoma bile duct cystadenoma Human disease
DOID:4075
bile duct cystadenoma class of disease bile duct adenoma bile duct disease biliary tract neoplasm benign neoplasms by histologic type Human disease
DOID:5384
bile duct disease class of disease biliary tract disease Human disease
DOID:4138
C06.130.120
bile duct mucinous adenocarcinoma class of disease bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma mucinous adenocarcinoma Human disease
DOID:3698
bile duct mucoepidermoid carcinoma class of disease mucoepidermoid carcinoma bile duct mucinous adenocarcinoma bile duct cancer Human disease
DOID:4681
bile duct rhabdomyosarcoma class of disease bile duct sarcoma rhabdomyosarcoma bile duct cancer rhabdomyosarcoma and sarcoma of bile duct that is located in the bile duct
DOID:3254
bile duct sarcoma class of disease bile duct cancer sarcoma
sarcoma and malignant tumor of extrahepatic bile duct that is located in the bile duct
DOID:4064
bile duct signet ring cell carcinoma class of disease signet ring cell adenocarcinoma bile duct carcinoma extrahepatic bile duct adenocarcinoma Human disease
DOID:3494
bile reflux class of disease biliary tract disease Human disease
DOID:12237
C06.130.140 C06.405.748.240.140
biliary dyskinesia
class of disease gallbladder disease common bile duct disease gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree
DOID:4140
C06.130.120.250.098
biliary papillomatosis
class of disease biliary tract neoplasm papilloma
biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree
DOID:5468
Intraductal papillary neoplasm of the bile duct
biliary reflux
class of disease duodenal disease stomach disease gastroesophageal reflux disease
human disease
DOID:4071
C06.405.469.275.700 C06.405.748.240
Biliary reflux
biliary tract cancer class of disease hepatobiliary system cancer biliary tract neoplasm gastrointestinal system cancer that results in malignant growth located in the gallbladder or located in the bile duct
DOID:4607
Biliary tract cancers
biliary tract disease class of disease biliary disease hepatobiliary disease
disease involving the biliary tree
DOID:9741
C06.130
biliary tract intraductal papillary mucinous neoplasm class of disease biliary tract neoplasm human disease
DOID:5469
biliary tract neoplasm class of disease hepatobiliary neoplasm biliary tract disease hepatobiliary neoplasm located in the biliary tract
DOID:0050625
C04.588.274.120 C06.130.320 C06.301.120
Biliary tract neoplasms
bilirubin metabolic disorder
class of disease inherited metabolic disorder hyperbilirubinemia inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism
DOID:2741
C16.320.565.300 C18.452.648.300
binocular vision disease class of disease strabismus vision disorder
human disease
DOID:12667
biotin deficiency
class of disease nutritional deficiency disease vitamin deficiency disease
nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth
DOID:0050810
biotinidase deficiency
class of disease multiple carboxylase deficiency disorder of other vitamins and cofactors metabolism and transport rare genetic epilepsy rare hereditary metabolic disease with peripheral neuropathy multiple carboxylase deficiency that involves a deficiency in biotinidase
DOID:856
C16.320.565.100.620.100 C16.320.565.202.720.100 C18.452.648.100.620.100 C18.452.648.202.720.100
biphasic synovial sarcoma class of disease synovial sarcoma
Human disease
DOID:5492
bipolar I disorder
class of disease bipolar disorder disease
bipolar disorder that is characterized by at least one manic or mixed episode
DOID:14042
bipolar II disorder
class of disease bipolar disorder disease
bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes
DOID:0060166
bipolar disorder
class of disease mood disorder
human mental illness characterized by mood changes
DOID:3312
F03.084.500
Bipolar disorder
bird fancier's lung
class of disease extrinsic allergic alveolitis rare allergic respiratory disease extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta, symptoms are abrupt onset of dyspnea, cough, malaise, and fever after exposure to antigen
DOID:13891
C08.381.483.125.125 C08.674.055.125 C20.543.480.680.075.125 C24.125
birdshot chorioretinopathy
class of disease uveitis white dot syndrome posterior uveitis non-infectious posterior uveitis human disease
DOID:0111079
C11.768.773.348.500 C11.941.160.478.400.500 C11.941.879.780.900.300.318.500 C11.941.879.780.900.650.250 C20.111.303
Birdshot chorioretinopathy
bizarre leiomyoma class of disease leiomyoma
Human disease
DOID:5127
black piedra
class of disease superficial mycosis disease
superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae
DOID:12711
Black piedra
bladder adenocarcinoma class of disease bladder carcinoma adenocarcinoma
bladder carcinoma that derives from epithelial cells of glandular origin
DOID:3711
Adenocarcinomas of the urinary bladder
bladder benign neoplasm class of disease urinary system benign neoplasm bladder disease
human disease
DOID:0050623
bladder calculus
class of disease urolithiasis bladder disease
stone found in the urinary bladder
DOID:11355
C12.777.829.720 C12.777.967.500.925 C13.351.968.829.521 C13.351.968.967.500.925 C23.300.175.850.875
Urinary bladder stones
bladder cancer
class of disease urinary system cancer bladder disease bladder neoplasm disease
urinary system cancer that results in malignant growth located in the urinary bladder
DOID:11054
Urinary bladder cancer
bladder carcinoma class of disease bladder cancer carcinoma
urinary bladder cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:4007
bladder carcinoma in situ class of disease non-invasive bladder urothelial carcinoma bladder flat intraepithelial lesion carcinoma in situ of breast and genitourinary system bladder disease in situ carcinoma
Human disease
DOID:9053
bladder clear cell adenocarcinoma class of disease bladder adenocarcinoma clear cell adenocarcinoma
Human disease
DOID:5306
bladder colloid adenocarcinoma class of disease bladder adenocarcinoma Human disease
DOID:3710
bladder colonic type adenocarcinoma class of disease bladder adenocarcinoma Human disease
DOID:6594
bladder diffuse clear cell adenocarcinoma class of disease bladder clear cell adenocarcinoma Human disease
DOID:6210
bladder disease
class of disease urinary system disease
urinary system disease that is located in the bladder
DOID:365
C12.777.829 C13.351.968.829
Diseases and disorders of the urinary bladder
bladder diverticulum class of disease bladder disease diverticulum genetic disease
Human disease
DOID:11353
Bladder diverticulum
bladder dome cancer class of disease bladder cancer
human disease
DOID:11820
bladder exstrophy
class of disease bladder disease bladder exstrophy-epispadias-cloacal exstrophy complex disease
congenital disorder of urinary system
DOID:0080174
C12.706.132 C12.777.829.132 C13.351.875.132 C13.351.968.829.132 C16.131.939.132
Bladder exstrophy
bladder exstrophy-epispadias-cloacal exstrophy complex class of disease congenital disorder urinary system disease
physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract
DOID:0080173
bladder flat intraepithelial lesion class of disease bladder benign neoplasm bladder cancer
Human disease
DOID:5429
bladder hepatoid adenocarcinoma class of disease bladder adenocarcinoma hepatoid adenocarcinoma
Human disease
DOID:8097
bladder lateral wall cancer class of disease bladder cancer
Human disease
DOID:11593
bladder leiomyoma class of disease bladder benign neoplasm leiomyoma
Human disease
DOID:13109
bladder lymphoma class of disease bladder cancer primary organ-specific lymphoma lymphoma
human disease
DOID:11821
bladder mixed adenocarcinoma class of disease bladder adenocarcinoma Human disease
DOID:8096
bladder neck cancer class of disease bladder cancer
human disease
DOID:11809
bladder neck obstruction
class of disease urinary tract obstruction bladder disease bladder outlet obstruction
Human disease
DOID:13948
C12.777.767.700.962 C12.777.829.760 C13.351.968.767.700.850 C13.351.968.829.601
bladder papillary clear cell adenocarcinoma class of disease bladder clear cell adenocarcinoma Human disease
DOID:8051
bladder papillary transitional cell neoplasm class of disease urinary tract papillary transitional cell benign neoplasm bladder cancer
Human disease
DOID:5432
bladder sarcoma class of disease bladder cancer sarcoma
sarcoma and malignant neoplasm of urinary bladder that is located in the bladder
DOID:11812
bladder signet ring cell adenocarcinoma class of disease bladder adenocarcinoma signet ring cell adenocarcinoma
Human disease
DOID:6481
bladder squamous cell carcinoma class of disease bladder carcinoma squamous cell carcinoma
carcinoma of bladder that is manifested in squamous cells of the bladder
DOID:3742
bladder squamous papilloma class of disease bladder benign neoplasm Human disease
DOID:13110
bladder transitional cell papilloma class of disease bladder papillary transitional cell neoplasm transitional papilloma urinary tract non-invasive transitional cell neoplasm urinary system benign neoplasm Human disease
DOID:6933
bladder trigone cancer class of disease bladder cancer bladder dome cancer Human disease
DOID:11813
bladder tubulo-cystic clear cell adenocarcinoma class of disease bladder clear cell adenocarcinoma Human disease
DOID:8050
bladder urachal adenocarcinoma class of disease bladder urachal carcinoma bladder adenocarcinoma urachal cancer
Human disease
DOID:7694
bladder urachal carcinoma class of disease bladder carcinoma urachal cancer
Human disease
DOID:5958
bladder urachal squamous cell carcinoma class of disease bladder urachal carcinoma bladder squamous cell carcinoma squamous cell carcinoma
Human disease
DOID:5957
bladder urachal urothelial carcinoma class of disease bladder urachal carcinoma bladder urothelial carcinoma Human disease
DOID:7244
bladder urothelial carcinoma class of disease bladder carcinoma transitional cell carcinoma
bladder carcinoma that has material basis in transitional cells located in the lining of the bladder
DOID:4006
bladder urothelial papillary carcinoma class of disease bladder urothelial carcinoma bladder papillary transitional cell neoplasm papillary transitional carcinoma Human disease
DOID:6975
bladder verrucous squamous cell carcinoma class of disease bladder squamous cell carcinoma verrucous carcinoma
Human disease
DOID:3741
blastema predominant kidney Wilms' tumor class of disease nephroblastoma
Human disease
DOID:5182
blastoma
class of disease cell type cancer disease
A cell type cancer that has material basis in abnormally proliferating cells derived from precursor cells called blast cells.
DOID:0070003
Blastomas
blepharitis
class of disease symptom or sign
eyelid disease eye inflammation inflammatory disease disease
eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow
DOID:9423
C11.338.133
Blepharitis
blepharochalasis
class of disease eyelid disease eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins
DOID:348
blepharocheilodontic syndrome 1 class of disease Blepharo-cheilo-odontic syndrome blepharocheilodontic syndrome that has material basis in heterozygous mutation in the CDH1 gene on chromosome 16q22
DOID:0080345
blepharocheilodontic syndrome 2 class of disease Blepharo-cheilo-odontic syndrome blepharocheilodontic syndrome that has material basis in heterozygous mutation in the CTNND1 gene on chromosome 11q12
DOID:0080346
blepharoconjunctivitis class of disease blepharitis conjunctivitis
blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis
DOID:2456
blepharophimosis
class of disease eyelid disease congenital physical abnormality disease
Human disease
DOID:10348
C11.250.090 C11.338.190 C16.131.384.190
Blepharophimosis
blepharospasm
class of disease focal dystonia cranio-facial dystonia disease
focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks
DOID:529
C11.338.250
blind hypertensive eye class of disease eye degenerative disease glaucoma
human disease
DOID:11776
blind loop syndrome
class of disease intestinal disease small intestinal bacterial overgrowth
intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption
DOID:10606
C06.405.469.637.145 C18.452.603.145
blindness
class of disease symptom or sign
visual impairment eye disease vision symptom sensory disability complete or nearly complete lack of vision; visual acuity worse than 3/60
DOID:1432
C10.597.751.941.162 C11.966.075 C23.888.592.763.941.162
Visual impairment
blood coagulation disease
class of disease symptom or sign
hematopoietic system disease hemic system symptom disease
condition in which the blood’s ability to coagulate (form clots) is impaired
DOID:1247
C15.378.100
blood group incompatibility class of disease hematopoietic system disease transfusion incident Human disease
DOID:4176
G09.188.114 G12.186
blood platelet disease class of disease hematopoietic system disease blood coagulation disease
disorder of platelet function
DOID:2218
C15.378.140
blood protein disease class of disease hematopoietic system disease
human disease
DOID:620
C15.378.147
blue toe syndrome
class of disease foot diseases cyanosis cholesterol embolism
Human disease
DOID:14121
C14.907.355.350.454.500.200 C14.907.617.249
blunt duct adenosis of breast class of disease microglandular adenosis non-proliferative fibrocystic change of the breast Human disease
DOID:5996
body dysmorphic disorder
class of disease somatoform disorder hypochondriasis disease
mental disorder
DOID:0060163
F03.875.149
Body dysmorphic disorder
bone Ewing's sarcoma class of disease Ewing sarcoma
peripheral primitive neuroectodermal tumor that is located in bone
DOID:3368
bone ameloblastoma class of disease bone benign neoplasm ameloblastoma
bone benign neoplasm that has material basis in odontogenic epithelium and is located in bone
DOID:0050895
bone angioendothelial sarcoma class of disease osteosarcoma vascular bone neoplasm bone sarcoma
Human disease
DOID:3351
bone benign neoplasm class of disease connective tissue benign neoplasm bone disease bone neoplasm musculoskeletal system benign neoplasm connective tissue benign neoplasm that is located in bone
DOID:0060094 DOID:0060120
bone cancer class of disease connective tissue neoplasm bone disease rare tumor rare bone disease musculoskeletal system cancer bone neoplasm
connective tissue cancer that is located in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue
DOID:184
Cancers of bone and articular cartilage
bone carcinoma class of disease bone cancer carcinoma
bone cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:2762
bone chondrosarcoma class of disease chondrosarcoma
chondrosarcoma that is located in bone
DOID:0050897
bone deterioration disease class of disease bone structure disease bone structure disease that results in change or damage of structure located in bone
DOID:0080007
bone development disease class of disease bone disease
bone disease that results in abnormal growth and development located in bone or located in cartilage
DOID:0080006
C05.116.099
bone disease
class of disease connective tissue disease
medical condition which affects the bone
DOID:0080001
C05.116
Osteopathies
bone epithelioid hemangioma class of disease bone benign neoplasm histiocytoid hemangioma Human disease
DOID:6610
bone giant cell sarcoma class of disease malignant giant cell tumor bone sarcoma
malignant giant cell tumor that is composed of multinucleated giant cells
DOID:4719
bone inflammation disease
class of disease bone disease inflammation disease
inflammation of bone
DOID:3342
C05.116.680
bone leiomyosarcoma class of disease osteosarcoma leiomyosarcoma
Human disease
DOID:3367
bone lymphoma class of disease bone cancer primary organ-specific lymphoma lymphoma
bone cancer and lymphoma by site that results in lymphoma starting in the bone
DOID:6759
bone marrow disease class of disease hematopoietic system disease bone disease
human disease
DOID:4961
C15.378.190
bone osteosarcoma class of disease osteosarcoma
Human disease
DOID:3376
bone peripheral neuroepithelioma class of disease bone Ewing's sarcoma Human disease
DOID:4388
bone remodeling disease class of disease bone disease
bone disease that results in formation or resorption abnormalities located in bone
DOID:0080005
bone resorption disease class of disease bone remodeling disease human disease
DOID:0080011
bone sarcoma
class of disease sarcoma bone cancer bone neoplasm
a sarcoma that arises from the bone, for example osteosarcoma and chondrosarcoma
DOID:0080639
bone squamous cell carcinoma class of disease bone carcinoma squamous cell carcinoma
bone carcinoma that derives from squamous epithelial cells
DOID:0050896
bone structure disease class of disease bone disease spinal disease
bone disease that has material basis in an abnormality in the location or function of the skeletal structure
DOID:0080010
borderline glaucoma class of disease glaucoma
Human disease
DOID:9283
borderline personality disorder
class of disease personality disorder disease
personality disorder characterized by variability of moods and unstable relationships
DOID:10930
F03.675.100
Borderline personality disorder
botryoid embryo rhabdomyosarcoma
class of disease embryonal rhabdomyosarcoma
Human disease
DOID:3255
bowel dysfunction class of disease intestinal disease
Human disease
DOID:9779
bowel obstruction
class of disease intestinal disease disease
Human disease
DOID:8437
C06.405.469.531
Intestinal obstruction
brachial plexus lesion
class of disease brachial plexus neuropathy nerve injury neck injury disease
brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus
DOID:8443
Brachial plexus injury
brachial plexus neoplasm class of disease nerve plexus neoplasm brachial plexus neuropathy central nervous system cancer neoplasm (disease) that involves the brachial nerve plexus
DOID:5913
brachial plexus neuritis class of disease neuritis brachial plexus neuropathy An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.
DOID:3689
C10.668.829.100.500 C10.668.829.650.250
brachial plexus neuropathy class of disease plexopathy peripheral neuropathy
brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand
DOID:3690
C10.668.829.100
Brachial plexus neuropathies
brachydactyly
class of disease dysostosis hand congenital deformity disease
bone development disease characterized by short fingers and toes
DOID:0050581
C05.660.585.262 C16.131.621.585.262
Brachydactyly
brachydactyly type A1B class of disease brachydactyly type A1 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has material basis in variation in the chromosome region 5p13.3-p13.2.
DOID:0110974
bradyopsia class of disease retinal disease genetic vitreous-retinal disease retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes
DOID:0050335
brain angioma class of disease hemangioma central nervous system organ benign neoplasm encephalopathy cerebrovascular disease
Human disease
DOID:5393
brain cancer class of disease central nervous system cancer brain tumor encephalopathy cancer
central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain
DOID:1319
brain compression class of disease encephalopathy
Human disease
DOID:11457
brain ependymoma class of disease brain glioma ependymal tumor bone cancer spinal disease
Human disease
DOID:7497
brain germinoma class of disease brain cancer central nervous system germinoma germ cell cancer Human disease
DOID:2127
brain glioblastoma multiforme class of disease brain glioma Human disease
DOID:3073
brain glioma class of disease brain cancer glioma
brain cancer that has material basis in glial cells
DOID:0060108
Brain gliomas
brain infarction class of disease cerebrovascular disease brain ischemia
Human disease
DOID:3454
C10.228.140.300.150.477 C10.228.140.300.775.200 C14.907.253.092.477 C14.907.253.855.200 C23.550.513.355.250 C23.550.717.489.250
brain ischemia
class of disease ischemia cerebrovascular disease stroke disease
insufficient blood flow to the brain
DOID:2316
C10.228.140.300.150 C14.907.253.092
Brain ischemia
brain meningioma class of disease brain cancer meningioma
Human disease
DOID:0060106
brain oligodendroglioma class of disease brain glioma oligodendroglioma
brain glioma that has material basis in oligodendrocytes
DOID:3187
brain sarcoma class of disease brain cancer central nervous system sarcoma Human disease
DOID:2132
brain small vessel disease class of disease encephalopathy
human disease
DOID:0112313
brain small vessel disease 3 class of disease brain small vessel disease autosomal recessive disease human disease
DOID:0112315
brain stem angioblastoma class of disease brain stem cancer hemangioblastoma benign neoplasm of brain stem carcinoma
Human disease
DOID:6501
brain stem astrocytic neoplasm class of disease Brainstem glioma brain astrocytoma Human disease
DOID:4860
brain stem cancer class of disease infratentorial cancer brain stem neoplasm
Human disease
DOID:4203
brain stem ependymoma class of disease Brainstem glioma brain ependymoma ependymal tumor
Human disease
DOID:5508
brain stem infarction class of disease brain infarction brain stem stroke syndrome
human disease
DOID:3523
C10.228.140.300.150.477.100 C10.228.140.300.775.200.100 C14.907.253.092.477.100 C14.907.253.855.200.100
brain stem medulloblastoma class of disease brain stem cancer medulloblastoma
brain stem cancer that begins in the lower part of the brain on the floor of the skull
DOID:0050899
brainstem intraparenchymal clear cell meningioma class of disease clear cell meningioma Human disease
DOID:4209
branch retinal artery occlusion
class of disease retinal artery occlusion Human disease
DOID:13094
branchiootorenal syndrome 1 class of disease branchiootorenal syndrome
human disease
DOID:0111423
branchiootorenal syndrome 2 class of disease branchiootorenal syndrome
human disease
DOID:0111424
brawny scleritis class of disease anterior scleritis Human disease
DOID:14287
breast adenocarcinoma class of disease breast carcinoma adenocarcinoma
breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast
DOID:3458
breast adenoid cystic carcinoma class of disease breast carcinoma breast adenocarcinoma invasive breast carcinoma Human disease
DOID:4877
breast adenoma class of disease breast benign neoplasm benign neoplasms by histologic type adenoma
Human disease
DOID:1625
breast adenomyoepithelial adenosis class of disease microglandular adenosis Human disease
DOID:7312
breast adenomyoepithelioma class of disease breast myoepithelial neoplasm breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells
DOID:1642
breast angiomatosis class of disease angiomatosis capillary disease breast disease
Human disease
DOID:1637
breast angiosarcoma class of disease breast sarcoma inherited soft tissue tumor inherited gynecological tumor rare genetic vascular tumor angiosarcoma
angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located in the cells that line the blood vessels within the breast or underarm area
DOID:4511
breast apocrine adenoma class of disease breast adenoma hidradenoma benign neoplasm of sweat gland apocrine adenoma benign epithelial skin neoplasm Human disease
DOID:7540
breast apocrine carcinoma class of disease breast adenocarcinoma apocrine adenocarcinoma Human disease
DOID:6581
breast apocrine carcinoma in situ class of disease breast carcinoma in situ Human disease
DOID:8428
breast benign neoplasm class of disease symptom or sign
thoracic benign neoplasm breast disease breast neoplasm non-metastasizing neoplasm arising from the breast parenchyma
DOID:0060082
breast cancer
class of disease symptom or sign
thoracic cancer breast disease breast neoplasm disease
cancer that originates in the mammary gland
DOID:1612
Breast cancer
breast capillary hemangioma class of disease breast hemangioma Human disease
DOID:6491
breast carcinoma class of disease breast cancer
A breast cancer that has material basis in abnormally proliferating cells derives from epithelial cells.
DOID:3459
Breast carcinomas
breast carcinoma in situ class of disease in situ carcinoma carcinoma in situ of breast and genitourinary system breast disease
Human disease
DOID:8791
C04.557.470.200.240.187 C04.588.180.130 C17.800.090.500.130
breast columnar cell mucinous carcinoma class of disease breast mucinous carcinoma
Human disease
DOID:8130
breast cystic hypersecretory carcinoma class of disease breast secretory carcinoma
Human disease
DOID:7537
breast disease
class of disease thoracic disease disease
thoracic disease that is located in the breast
DOID:3463
C17.800.090
Diseases and disorders of the breast
breast duct papilloma class of disease intraductal papillary breast neoplasm papilloma
Human disease
DOID:1626
breast ductal adenoma class of disease breast adenoma Human disease
DOID:7538 DOID:5397
breast ductal carcinoma class of disease breast carcinoma ductal carcinoma
breast carcinoma that derives from the lining of milk ducts
DOID:3007
C04.557.470.200.025.232.500 C04.557.470.615.132.500 C04.588.180.390 C17.800.090.500.390
Breast ductal carcinomas
breast epithelioid hemangioma class of disease breast hemangioma histiocytoid hemangioma Human disease
DOID:6492
breast fibroadenoma
class of disease breast benign neoplasm adenoma disease
breast benign neoplasm comprised of fibrous and glandular tissues
DOID:1618
C04.557.450.565.590.595.350 C04.557.470.625.350
Breast fibroadenomas
breast fibrocystic disease
class of disease symptom or sign
breast benign neoplasm benign mammary dysplasia Human disease
DOID:10354
C17.800.090.750
Fibrocystic breast changes
breast fibrosarcoma class of disease breast sarcoma fibrosarcoma
Human disease
DOID:6001
breast giant fibroadenoma class of disease breast fibroadenoma
Human disease
DOID:7223
breast granular cell tumor class of disease breast cancer
Human disease
DOID:3011
breast hemangioma class of disease breast benign neoplasm hemangioma
Human disease
DOID:476
breast hemangiopericytoma class of disease breast sarcoma hemangiopericytoma
hemangiopericytoma that is manifested in the breast
DOID:5370
breast implant-associated anaplastic large cell lymphoma class of disease peripheral T-cell lymphoma
human disease
DOID:0070333
breast intracanalicular fibroadenoma class of disease breast fibroadenoma
Human disease
DOID:2656
breast intraductal papillomatosis class of disease breast papillomatosis intraductal papillomatosis intraductal breast papilloma Human disease
DOID:7511
breast intraductal proliferative lesion class of disease intraductal breast neoplasm Human disease
DOID:6839
breast juvenile papillomatosis class of disease breast papillomatosis
Human disease
DOID:6641
breast large cell neuroendocrine carcinoma class of disease inherited gynecological tumor rare genetic respiratory disease inherited neuroendocrine tumor invasive breast carcinoma breast carcinoma Human disease
DOID:6657
breast leiomyoma class of disease breast benign neoplasm leiomyoma
Human disease
DOID:1623
breast leiomyosarcoma class of disease breast sarcoma inherited gynecological tumor inherited soft tissue tumor Human disease
DOID:5285
breast liposarcoma class of disease breast sarcoma Human disease
DOID:5701
breast lobular carcinoma class of disease breast carcinoma Lobular carcinoma
breast carcinoma that derives from breast lobules (milk glands)
DOID:0050938
C04.557.470.200.025.305 C04.557.470.615.305 C04.588.180.437 C17.800.090.500.437
breast lymphoma class of disease breast cancer inherited gynecological tumor genetic hematologic disease lymphoma
Human disease
DOID:5826
breast malignant eccrine spiradenoma class of disease breast cancer inherited gynecological tumor inherited skin tumor genetic epidermal disorder malignant spiradenoma breast adenocarcinoma Human disease
DOID:7983
breast malignant phyllodes tumor class of disease breast cancer breast fibroepithelial neoplasm phyllodes tumor malignant phyllodes tumor Human disease
DOID:3016
breast medullary carcinoma class of disease breast adenocarcinoma invasive ductal carcinoma
Human disease
DOID:5605
breast metaplastic carcinoma class of disease breast carcinoma Metaplastic carcinoma invasive breast carcinoma Human disease
DOID:4680
breast mucinous carcinoma
class of disease breast adenocarcinoma invasive ductal carcinoma
Human disease
DOID:3610
Mucinous breast carcinoma
breast mucinous cystadenocarcinoma class of disease breast mucinous carcinoma mucinous cystadenocarcinoma
Human disease
DOID:3609
breast mucoepidermoid carcinoma class of disease breast metaplastic carcinoma breast adenocarcinoma mucoepidermoid carcinoma
Human disease
DOID:4679
breast myoepithelial carcinoma class of disease breast carcinoma invasive breast carcinoma myoepithelial carcinoma Human disease
DOID:6776
breast myoepithelial neoplasm class of disease breast cancer
Human disease
DOID:3004
breast myoepitheliosis class of disease breast myoepithelial neoplasm Human disease
DOID:7521
breast neuroendocrine neoplasm class of disease breast benign neoplasm Human disease
DOID:3009
breast osteosarcoma class of disease breast sarcoma extraosseous osteosarcoma Human disease
DOID:7787
breast papillary carcinoma
class of disease breast carcinoma breast papillary neoplasm Human disease
DOID:5592
breast papillomatosis
class of disease breast benign neoplasm papillomatosis
Human disease
DOID:1634
breast pericanalicular fibroadenoma class of disease breast fibroadenoma
Human disease
DOID:2639
breast rhabdomyosarcoma class of disease breast sarcoma Human disease
DOID:4060
breast sarcoma class of disease breast cancer
breast cancer that has material basis in abnormally proliferating cells derives from mesenchymal cells
DOID:3017
breast scirrhous carcinoma class of disease breast carcinoma invasive ductal carcinoma
Human disease
DOID:7578
breast secretory carcinoma
class of disease breast adenocarcinoma invasive ductal carcinoma secretory carcinoma
Human disease
DOID:4922
breast signet ring cell adenocarcinoma class of disease breast adenocarcinoma signet ring cell adenocarcinoma invasive breast carcinoma Human disease
DOID:3503
breast squamous cell carcinoma class of disease breast metaplastic carcinoma squamous cell carcinoma
Human disease
DOID:5514
brittle cornea syndrome 2 class of disease autosomal recessive disease corneal disease Ehlers-Danlos syndrome
human disease
DOID:0080729
broad ligament malignant neoplasm class of disease uterine adnexa cancer Human disease
DOID:10744
bronchial mucus gland adenoma class of disease bronchus adenoma Human disease
DOID:7030
bronchial neoplasm class of disease respiratory system benign neoplasm bronchospasm
human disease
DOID:3906
C04.588.894.797.520.109 C08.127.265 C08.785.520.100
bronchiectasis 1 class of disease bronchiectasis autosomal dominant disease bronchiectasis that has material basis in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12
DOID:0080526
bronchiectasis 2 class of disease autosomal dominant disease bronchiectasis
bronchiectasis that has material basis in mutation in the gene encoding the alpha subunit of the epithelial sodium channel
DOID:0080527
bronchiectasis 3 class of disease autosomal dominant disease bronchiectasis
bronchiectasis that has material basis in mutation in the gene encoding the gamma subunit of the epithelial sodium channel
DOID:0080528
bronchiolitis
class of disease symptom or sign
lung disease bronchospasm respiratory syncytial virus infectious disease respiratory signs and symptoms disease
blockage of the small airways in the lungs due to a viral infection
DOID:2942
C08.127.446.135 C08.381.495.146.135 C08.730.099.135 C01.748.099.135
Bronchiolitis
bronchiolo-alveolar adenocarcinoma class of disease adenocarcinoma of the lung
lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension
DOID:4926
C04.557.470.200.025.022.500 C04.588.894.797.520.055.500
Bronchiolo-alveolar carcinoma
bronchitis
class of disease symptom or sign
bronchospasm chronic obstructive pulmonary disease respiratory signs and symptoms disease
inflammation of the large airways in the lungs
DOID:6132
C08.127.446 C08.381.495.146 C08.730.099
Bronchitis
bronchospasm
class of disease lower respiratory tract disease bronchial disease disease
lower respiratory tract disease that affects the airways leading into the lungs
DOID:1176
C08.127.321
bronchus adenoma class of disease lung adenoma bronchial neoplasm respiratory tract papilloma benign neoplasms by histologic type adenoma
Human disease
DOID:5391
bronchus cancer class of disease respiratory system cancer lung cancer bronchospasm
respiratory system cancer that is located in the bronchus
DOID:1325
bronchus carcinoma class of disease bronchus cancer carcinoma
bronchus cancer that has material basis in epithelial cells
DOID:3904
C04.588.894.797.520.109.220 C08.381.540.140 C08.785.520.100.220
brown shrimp allergy class of disease shrimp allergy crustacean allergy crustacean allergy triggered by Farfantepenaeus aztecus
DOID:0060525
bruxism
class of disease symptom or sign
sleep disorder parafunctional habit disease
disorder that involves involuntarily grinding or clenching of the teeth
DOID:2846
C07.793.099
Bruxism
bubonic plague
class of disease plague lymph node disease disease
human and animal disease
DOID:10773
Bubonic plague
bulbomembranous urethral cancer class of disease male urethral cancer Human disease
DOID:8259
bulbospinal polio class of disease paralytic poliomyelitis spinal cord disease
Human disease
DOID:0050514
bullous keratopathy
class of disease corneal edema keratopathy cornea blistering Human disease
DOID:11031
bullous pemphigoid
class of disease autoimmune skin disease pemphigoid bullous skin disease disease
autoimmune disease of skin and connective tissue characterized by large blisters
DOID:8506
C17.800.865.690 C20.111.730
Bullous pemphigoid
bullous retinoschisis class of disease retinoschisis
Human disease
DOID:12108
bullous skin disease class of disease dermatitis cellulitis autoimmune skin disease connective tissue disease
An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located in skin. The disease is associated with the amount of gluten ingested.
DOID:8502
buphthalmos
class of disease hydrophthalmos disease
Human disease
DOID:11211
Buphthalmos
burning mouth syndrome
class of disease symptom or sign
mouth disease dysesthesia glossalgia rare headache disorder burning sensation disease
Human disease
DOID:4331
C07.465.114
Burning mouth syndrome
bursitis
class of disease symptom or sign
arthropathy synovial, tendon or bursa disorder inflammation disease
human disease
DOID:2965
C05.550.251
Bursitis
byssinosis
class of disease pneumoconiosis disease
human disease of the respiratory system
DOID:10323
C08.381.483.581.275 C24.800.323 C08.381.520.702.275
calcaneal spur
class of disease osteophyte foot diseases exostosis
exostosis that results in an abnomal growth located in calcaneus
DOID:210
C05.116.540.310.600 C05.360.400
Calcaneal spur
calcaneonavicular coalition class of disease synostosis tarsal-carpal coalition syndrome synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet
DOID:14762
calcific tendinitis
class of disease tendinitis calcium deposits in tendon and bursa disorder characterized by deposits of hydroxyapatite (a crystalline calcium phosphate) in any tendon of the body
DOID:14181
Calcific tendinitis
calcinosis
class of disease calcium metabolism disease ectopic calcification disease
calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue
DOID:182
C18.452.174.130
Calcinosis
calciphylaxis
class of disease calcinosis systemic disease vascular disease
Human disease
DOID:4734
C18.452.174.130.186
Calciphylaxis
calcium metabolism disease
class of disease mineral metabolism disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization
DOID:10575
C18.452.174
calcium oxalate nephrolithiasis class of disease nephrolithiasis human disease
DOID:0080652
cancer
class of disease disease of cellular proliferation neoplasm tumor disease
group of diseases involving abnormal cell growth and spread
DOID:162
cancer of exocrine pancreas class of disease pancreatic cancer pancreatic exocrine neoplasm Human disease
DOID:1795
cancerophobia
class of disease nosophobia
overwhelming, irrational, and persistent fear of being diagnosed with cancer
DOID:602
candidal paronychia class of disease candidiasis paronychia nail disease
Human disease
DOID:14512
cannabis abuse class of disease substance abuse effects of cannabis cannabis consumption
substance abuse that involves the recurring use of cannabis despite negative consequences
DOID:9505
C25.775.635 F03.900.635
cannabis dependence
class of disease hallucinogen dependence effects of cannabis
drug dependence that involves the continued use of cannabis despite problems related to use of the substance
DOID:1849
capillariasis
class of disease parasitic helminthiasis infectious disease intestinal disease liver disease lung disease disease
disease caused by nematodes of the genus Capillaria
DOID:12474
capillary disease class of disease vascular disease microangiopathy
vascular disease that is located in the capillaries
DOID:1271
capillary hemangioma
class of disease symptom or sign
capillary disease skin hemangioma most common variant of hemangioma, dull red, firm, dome-shaped hemangioma, usually located on the head and neck, which grows rapidly caused by proliferation of immature capillary vessels
DOID:2725
C04.557.645.375.380
Cutaneous capillary hemangioma
capillary leak syndrome
class of disease capillary disease urticarial syndrome disease
human disease
DOID:14400
C14.907.218
capillary lymphangioma class of disease capillary disease lymphangioma
Human disease
DOID:2286
carbamazepine allergy class of disease drug allergy
drug allergy that has allergic trigger carbamazepine
DOID:0040006
carbapenem allergy class of disease drug allergy beta-lactam allergy drug allergy that has allergic trigger carbapenems
DOID:0040032
carbohydrate metabolic disorder
class of disease inherited metabolic disorder carbohydrate metabolism disease inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates
DOID:2978
C16.320.565.202 C18.452.648.202
Disorders of carbohydrate metabolism
carbohydrate metabolism disease class of disease acquired metabolic disease acquired metabolic disease that is characterized by abnormal carbohydrate metabolism
DOID:0050013
carbuncle
class of disease гнійне захворювання pyoderma
human disease
DOID:2176
C01.150.252.410.868.951.270.200 C01.150.252.819.770.270.200 C01.800.720.770.270.200 C17.800.838.765.770.270.200
Carbuncles
carcinoma of supraglottis class of disease supraglottis cancer Human disease
DOID:7763
carcinosarcoma
class of disease malignant mixed tumor disease
mixed cell type cancer that has material basis in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components
DOID:4236
C04.557.435.290 C04.557.450.795.290
Carcinosarcoma
cardia cancer class of disease stomach cancer
human disease
DOID:10548
cardiac granular cell neoplasm class of disease cardiovascular organ benign neoplasm benign neoplasm of epicardium Human disease
DOID:5044
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies class of disease genetic disease genetic syndromic intellectual disability rare syndrome with cardiac malformations syndrome autosomal dominant disease human disease
DOID:0111697
cardiac sarcoidosis class of disease sarcoidosis heart disease
Human disease
DOID:13405
cardiac tuberculosis class of disease cardiovascular tuberculosis heart disease
human disease
DOID:0060570
cardiac valvular defect, developmental class of disease genetic disease congenital disorder Heart valve dysplasia
human disease
DOID:0080633
cardiofaciocutaneous syndrome 1 class of disease autosomal dominant disease cardiofaciocutaneous syndrome
human disease
DOID:0111460
cardiofaciocutaneous syndrome 2 class of disease autosomal dominant disease cardiofaciocutaneous syndrome
human disease
DOID:0111461
cardiofaciocutaneous syndrome 3 class of disease cardiofaciocutaneous syndrome autosomal dominant disease human disease
DOID:0111462
cardiofaciocutaneous syndrome 4 class of disease cardiofaciocutaneous syndrome autosomal dominant disease human disease
DOID:0111463
cardiomyopathy, infantile hypertrophic class of disease genetic disease hypertrophic cardiomyopathy
human disease
DOID:0111753
cardiovascular organ benign neoplasm class of disease organ system benign neoplasm cardiovascular neoplasm cardiovascular disease
organ system benign neoplasm disease located in the blood, heart, blood vessels or the lymphatic system
DOID:0060091
carotenemia class of disease acquired metabolic disease Human disease
DOID:9969
carotid artery disease class of disease cerebrovascular disease artery disease human disease
DOID:3407
C10.228.140.300.200 C14.907.253.123
carotid artery dissection
class of disease carotid artery disease dissection disease
Human disease
DOID:9348
carotid artery occlusion class of disease occlusion precerebral artery carotid artery stenosis carotid artery disease Vascular occlusion
human disease
DOID:807
carotid artery stenosis
class of disease carotid artery disease peripheral artery disease
narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis
DOID:13001
C10.228.140.300.200.360 C14.907.137.230 C14.907.253.123.360
Carotid artery stenosis
carotid artery thrombosis class of disease carotid artery disease intracranial thrombosis Human disease
DOID:3410
C10.228.140.300.200.355 C14.907.253.123.355 C14.907.253.566.206 C14.907.355.590.213.206
carp allergy class of disease fish allergy
fish allergy triggered by Cyprinus carpio
DOID:0060516
cartilage cancer class of disease connective tissue neoplasm chondropathy cartilage tumor
Human disease
DOID:0060102
carvone allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger (-)-carvone
DOID:0040064
cascade stomach class of disease stomach disease
Human disease
DOID:12234
cataract 1 multiple types class of disease cataract autosomal dominant disease cataract that has material basis in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21
DOID:0110231
cataract 24 class of disease cataract autosomal dominant disease cataract that has material basis in variation in the region 17p13
DOID:0110257
cataract 26 multiple types class of disease cataract
cataract that has material basis in variation in the region 9q13-q22
DOID:0110246
cataract 27 class of disease cataract
cataract that has material basis in mutation in the region 2p12
DOID:0110233
cataract 28 class of disease cataract
human disease
DOID:0110244
cataract 29 class of disease cataract autosomal dominant disease cataract that has material basis in variation in the region 2pter-p24
DOID:0110232
cataract 3 multiple types class of disease cataract autosomal dominant disease cataract that has material basis in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11
DOID:0110269
cataract 37 class of disease cataract autosomal dominant disease A cataract that has material basis in variation in the region 12q24.2-q24.3.
DOID:0110252
cataract 4 multiple types class of disease cataract autosomal dominant disease cataract that has material basis in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33
DOID:0110234
cataract 47 class of disease autosomal dominant disease cataract
human disease
DOID:0070353
cataract 48 class of disease cataract autosomal recessive disease human disease
DOID:0070354
cataract 9 multiple types class of disease cataract autosomal recessive disease autosomal dominant disease cataract that has material basis in heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22
DOID:0110266
catecholaminergic polymorphic ventricular tachycardia 1 class of disease catecholaminergic polymorphic ventricular tachycardia
catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the RYR2 gene on chromosome 1q43
DOID:0060675
cauda equina intradural extramedullary astrocytoma class of disease cauda equina neoplasm Human disease
DOID:4846
cauda equina neoplasm class of disease spinal cord neoplasm nerve root neoplasm Human disease
DOID:4847
cauda equina syndrome
class of disease peripheral neuropathy syndrome disease
nerve damage at the end of the spinal cord
DOID:11577
C10.668.829.550.350 C10.668.829.800.750.150
Cauda equina syndrome
causalgia class of disease complex regional pain syndrome
human disease
DOID:3222
C10.177.195.200 C10.668.829.250.200 C10.668.829.600.200
cavernous hemangioma
class of disease symptom or sign
vascular hemostatic disease disease
human disease
DOID:483
C04.557.645.375.385 C14.907.454.385 C15.378.463.515.385
Cavernous hemangiomas
cavernous hemangioma of orbit class of disease cavernous hemangioma hemangioma of orbit Human disease
DOID:14463
cavernous sinus thrombosis
class of disease cerebral venous sinus thrombosis disease
Human disease
DOID:3575
C10.228.140.300.525.425.500.375 C14.907.253.566.350.500.375 C14.907.355.590.213.350.500.375
cecal disease class of disease intestinal disease
intestinal disease located in the cecum
DOID:1518
C06.405.469.110
cecum adenoma class of disease cecal benign neoplasm benign neoplasms by histologic type adenoma
cecal benign neoplasm that has material basis in epithelial tissue with glandular origin
DOID:0050910
cecum cancer class of disease large intestine cancer cecal neoplasm cecal disease large intestine cancer that is located in the cecum
DOID:1521
cecum lymphoma class of disease cecum cancer lymphoma
human disease
DOID:1522
cefaclor allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger cefaclor
DOID:0040023
cefixime allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger cefixime
DOID:0040030
cefotaxime allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger cefotaxime
DOID:0040020
cefotiam allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger cefotiam
DOID:0040103
ceftazidime allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger ceftazidime
DOID:0040024
ceftriaxone allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger ceftriaxone
DOID:0040005
cefuroxime allergy class of disease cephalosporin allergy cephalosporin allergy that has allergic trigger cefuroxime
DOID:0040025
celery allergy class of disease vegetable allergy human disease
DOID:0070335
celiac disease
class of disease symptom or sign
autoimmune disease of gastrointestinal tract gluten-related disorder disease
long term autoimmune disorder caused by a reaction to gluten
DOID:10608
C06.405.469.637.250 C18.452.603.250
Coeliac disease
cell type cancer class of disease cancer
cancer that is classified by the type of cell from which it is derived
DOID:0050687
Cancers by histological type
cellular congenital mesoblastic nephroma class of disease congenital mesoblastic nephroma Human disease
DOID:8082
cellular ependymoma class of disease benign ependymoma An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)
DOID:5500
cellular leiomyoma class of disease leiomyoma
Human disease
DOID:5139
cellular myxoid liposarcoma class of disease liposarcoma myxoid liposarcoma
Human disease
DOID:5692
cellular neurofibroma class of disease neurofibroma
Human disease
DOID:5152
cellular phase chronic idiopathic myelofibrosis
class of disease myelofibrosis chronic idiopathic myelofibrosis Human disease
DOID:8106
cellular schwannoma class of disease neurilemmoma
neurilemmoma with a predominantly cellular growth but no Verocay bodies
DOID:3196
central breast papilloma class of disease breast duct papilloma Human disease
DOID:8224
central conducting lymphatic anomaly class of disease lymphatic system disease autosomal dominant disease human disease
DOID:0081030
central corneal ulcer class of disease corneal ulcer
Human disease
DOID:9910
central epithelioid sarcoma class of disease epithelioid sarcoma
Human disease
DOID:7492
central gyrate choroidal dystrophy class of disease partial central choroid dystrophy human disease
DOID:9820
central nervous system adult germ cell tumor class of disease central nervous system germ cell tumor Human disease
DOID:5349
central nervous system angiosarcoma class of disease central nervous system sarcoma central nervous system sarcoma that is located in the inner lining of blood vessels
DOID:4504
central nervous system cancer class of disease nervous system cancer central nervous system neoplasm central nervous system disease
nervous system cancer that is located in the central nervous system
DOID:3620
central nervous system childhood germ cell tumor class of disease central nervous system germ cell tumor germ cell cancer pediatric germ cell tumor Human disease
DOID:6052
central nervous system chondroma class of disease chondroma central nervous system organ benign neoplasm soft tissue chondroma Human disease
DOID:3813
central nervous system disease
class of disease neurological disorder nervous system disease
nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system
DOID:331
C10.228
Diseases and disorders of the central nervous system
central nervous system embryonal carcinoma class of disease central nervous system germ cell tumor embryonal carcinoma primary germ cell tumor of central nervous system Human disease
DOID:7232
central nervous system endodermal sinus tumor class of disease central nervous system germ cell tumor malignant mixed tumor sarcoma germ cell cancer primary germ cell tumor of central nervous system Human disease
DOID:5343
central nervous system fibrosarcoma class of disease central nervous system sarcoma fibrosarcoma
Human disease
DOID:6451
central nervous system germ cell tumor class of disease central nervous system cancer extragonadal germ cell tumor germ cell cancer Human disease
DOID:4439
central nervous system germinoma class of disease central nervous system germ cell tumor germinoma germ cell cancer Human disease
DOID:4438
central nervous system hemangioma class of disease hemangioma central nervous system organ benign neoplasm hemangioma arising from the brain and spinal cord
DOID:501
central nervous system hematologic cancer class of disease central nervous system cancer hematologic cancer hematologic cancer and central nervous system neoplasm that is located in the central nervous system
DOID:5772
central nervous system immature teratoma class of disease central nervous system teratoma Human disease
DOID:6019
central nervous system leiomyoma class of disease central nervous system organ benign neoplasm leiomyoma
Human disease
DOID:5126
central nervous system leiomyosarcoma class of disease central nervous system mesenchymal non-meningothelial tumor leiomyosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm Human disease
DOID:5254
central nervous system leukemia class of disease leukemia central nervous system hematologic cancer central nervous system cancer hematologic cancer located in the central nervous system
DOID:12969
central nervous system lipoma class of disease central nervous system organ benign neoplasm lipoma
human disease
DOID:6293
central nervous system lymphoma class of disease lymphoma central nervous system hematologic cancer hematologic cancer that has material basis in lymphoma located in central nervous system
DOID:3234
central nervous system mature teratoma class of disease central nervous system teratoma mature teratoma Human disease
DOID:6017
central nervous system melanocytic neoplasm class of disease central nervous system neoplasm melanocytic tumor central nervous system cancer Human disease
DOID:4955
central nervous system organ benign neoplasm class of disease nervous system benign neoplasm central nervous system neoplasm central nervous system disease
Human disease
DOID:0060090
central nervous system origin vertigo class of disease central nervous system disease encephalopathy vertigo
Human disease
DOID:2479
central nervous system osteosarcoma class of disease central nervous system mesenchymal non-meningothelial tumor extraosseous osteosarcoma malignant central nervous system mesenchymal, non-meningothelial neoplasm Human disease
DOID:7994
central nervous system primitive neuroectodermal neoplasm
class of disease central nervous system cancer neuroectodermal tumor Embryonal tumors of the central nervous system primitive neuroectodermal tumor
Human disease
DOID:0060103
Primitive neuroectodermal tumor
central nervous system rhabdomyosarcoma class of disease central nervous system sarcoma rhabdomyosarcoma nervous system cancer central nervous system disease
Human disease
DOID:4048
central nervous system sarcoma class of disease central nervous system cancer sarcoma
human disease
DOID:2133
central nervous system teratoma class of disease central nervous system germ cell tumor primary germ cell tumor of central nervous system sarcoma germ cell cancer Human disease
DOID:3640
central nervous system vasculitis
class of disease vasculitis central nervous system disease disease
Human disease
DOID:525
C10.114.875 C10.228.140.300.850 C14.907.253.946 C14.907.940.907 C20.111.258.962
central neurocytoma
class of disease neurocytoma cerebral ventricle cancer Human disease
DOID:14174
Central neurocytoma
central pontine myelinolysis
class of disease demyelinating disease demyelinating disease of central nervous system demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has symptom acute paralysis, has symptom dysphagia, and has symptom dysarthria
DOID:636
C10.228.140.163.560 C10.314.500 C18.452.132.560
Central pontine myelinolysis
central precocious puberty class of disease endocrine system disease
human disease
DOID:0112308
central precocious puberty 1 class of disease autosomal dominant disease human disease
DOID:0112310
central pterygium class of disease progressive peripheral pterygium Human disease
DOID:13473
central retinal artery occlusion
class of disease retinal artery occlusion retinal artery occlusion characterized by blockage of blood flow through the central retinal artery
DOID:13098
Central retinal artery occlusion
central retinal vein occlusion
class of disease retinal vein occlusion Human disease
DOID:2450
central sleep apnea
class of disease sleep apnea
sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing
DOID:9220
C08.618.085.852.800 C10.886.425.800.750.800
centronuclear myopathy 1 class of disease
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has material basis in heterozygous mutation in DNM2 on 19p13.2.
DOID:0111223
centronuclear myopathy 2 class of disease centronuclear myopathy autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that has material basis in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.
DOID:0111220
centronuclear myopathy 4 class of disease autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy that has material basis in heterozygous mutation in CCDC78 on 16p13.3.
DOID:0111224
centronuclear myopathy 5 class of disease autosomal recessive centronuclear myopathy autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has material basis in homozygous or compound heterozygous mutation in SPEG on 2q35
DOID:0111222
centronuclear myopathy 6 with fiber-type disproportion class of disease congenital fiber-type disproportion
A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has material basis in homozygous or compound heterozygous mutation in ZAK on 2q31.1.
DOID:0111221
centronuclear myopathy X-linked class of disease centronuclear myopathy
centronuclear myopathy that has material basis in X-linked inheritance of mutations in MTM1 on Xq28
DOID:0111225
cephalosporin allergy class of disease drug allergy beta-lactam allergy drug allergy that has allergic trigger cephalosporin
DOID:0040021
cercarial dermatitis
class of disease schistosomiasis skin disease
human disease
DOID:11302
Schistosome cercarial dermatitis
cerebellar angioblastoma class of disease cerebellum cancer hemangioblastoma benign neoplasm of cerebellum carcinoma
Human disease
DOID:6500
Cerebellar hemangioblastoma
cerebellar astrocytoma class of disease cerebellum cancer brain astrocytoma glioma
Human disease
DOID:4848
cerebellar ataxia
class of disease cerebellar disease hereditary ataxia cerebellar disease characterized by ataxia originating in the cerebellum.
DOID:0050753
C10.228.140.252.190 C10.597.350.090.500 C23.888.592.350.090.200
Cerebellar ataxia
cerebellar ataxia type 48 class of disease spinocerebellar ataxia
human disease
DOID:0111746
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay class of disease syndrome neurodevelopmental disorder
human disease
DOID:0070339
cerebellar hypoplasia
class of disease neurological disorder
rare disorder in which the cerebellum is either missing entirely or is smaller than usual
DOID:0070338
Cerebellar hypoplasia
cerebellar liponeurocytoma class of disease cerebellum cancer neuronal tumor Human disease
DOID:6458
cerebellar medulloblastoma class of disease cerebellum cancer medulloblastoma
cerebellum cancer that begins in the lower part of the brain on the floor of the skull
DOID:0060104
cerebellar vermis medulloblastoma class of disease cerebellar medulloblastoma medulloblastoma
Human disease
DOID:3860
cerebellopontine angle meningioma class of disease cerebellopontine angle tumor meningioma brain meningioma Human disease
DOID:6337
cerebellopontine angle primitive neuroectodermal class of disease cerebellopontine angle tumor Human disease
DOID:4787
cerebellopontine angle tumor class of disease brain stem neoplasm brain stem cancer Human disease
DOID:3200
cerebellum cancer class of disease infratentorial cancer cerebellar disease infratentorial neoplasm Human disease
DOID:4205
C04.588.614.250.195.411.211 C10.228.140.211.500.200 C10.228.140.252.200 C10.551.240.250.400.300
cerebral amyloid angiopathy
class of disease amyloidosis
amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes
DOID:9246
C10.228.140.300.510.200.200 C14.907.253.560.200.200 C18.452.845.500.100
Cerebral amyloid angiopathy
cerebral angioma class of disease brain angioma benign neoplasm of cerebrum Human disease
DOID:6621
cerebral arterial disease class of disease intracranial arterial disease artery disease Human disease
DOID:3527
C10.228.140.300.510.200 C14.907.253.560.200
cerebral arteriovenous malformation
class of disease rare genetic vascular tumor rare nervous system tumor central nervous system vascular malformation rare genetic epilepsy genetic central nervous system and retinal vascular disease central nervous system organ benign neoplasm hemangioma encephalopathy cerebrovascular disease
arteriovenous malformation that is located in the brain
DOID:0060688
C10.228.140.300.520 C10.500.190.500 C14.240.850.750.295 C14.240.850.875.500 C14.907.150.295 C14.907.253.560.400 C16.131.240.850.750.295 C16.131.240.850.875.500 C16.131.666.190.500
Cerebral arteriovenous malformation
cerebral arteritis class of disease central nervous system vasculitis cerebrovascular disease arteritis
Human disease
DOID:11390
cerebral artery occlusion class of disease cerebral infarction cerebrovascular disease
human disease
DOID:10127
cerebral atherosclerosis
class of disease atherosclerosis intracranial arteriosclerosis type of atherosclerosis where build-up of plaque in the blood vessels of the brain occurs
DOID:12720
cerebral cavernous angioma class of disease central nervous system cavernous hemangioma cerebrovascular disease
vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support
DOID:0060669
cerebral cavernous malformation 1 class of disease cerebral cavernous angioma cerebral cavernous malformation that has material basis in heterozygous mutation in the KRIT1 gene on chromosome 7q21
DOID:0080491
cerebral convexity meningioma class of disease cerebral meningioma Human disease
DOID:6114
cerebral creatine deficiency syndrome
class of disease amino acid metabolic disorder Human disease
DOID:0050798
cerebral degeneration
class of disease disease
encephalopathy neurodegeneration
human disease
DOID:1443
Cerebral atrophy
cerebral edema
class of disease encephalopathy disease
human disease
DOID:4724
C10.228.140.187
Cerebral edema
cerebral hemisphere lipoma class of disease central nervous system lipoma benign neoplasm of cerebrum intracranial lipoma Human disease
DOID:6291
cerebral infarction
class of disease brain infarction disease
type of ischemic stroke resulting from a blockage in the blood vessels supplying blood to the brain
DOID:3526
C10.228.140.300.150.477.200 C10.228.140.300.775.200.200 C14.907.253.092.477.200 C14.907.253.855.200.200 C23.550.513.355.250.200 C23.550.717.489.250.200
Cerebral infarction
cerebral lipidosis class of disease cerebral degeneration lipid storage disease encephalopathy metabolic disease with dementia Human disease
DOID:10742
cerebral lymphoma class of disease cerebrum cancer central nervous system lymphoma lymphoma central nervous system hematologic cancer cerebrum cancer that affects the lymph cells and derives from the brain
DOID:5815
cerebral malaria class of disease malaria
malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species
DOID:14069
C01.207.205.300.500 C01.610.105.300.500 C01.610.752.530.620 C01.920.875.620 C10.228.228.205.300.500
Cerebral malaria
cerebral meningioma class of disease cerebrum cancer meningioma
Human disease
DOID:6112
cerebral neuroblastoma class of disease brain cancer cerebrum cancer intracranial primitive neuroectodermal tumor Human disease
DOID:4164
cerebral palsy
class of disease encephalopathy cerebral degeneration palsy disease
group of permanent movement disorders that appear in early childhood
DOID:1969
C10.228.140.140.254
Cerebral palsy
cerebral primitive neuroectodermal tumor class of disease cerebrum cancer primitive neuroectodermal tumor
Human disease
DOID:7398
cerebral sarcoidosis class of disease sarcoidosis neurosarcoidosis
Human disease
DOID:13403
cerebral venous sinus thrombosis
class of disease venous thrombosis intracranial thrombosis stroke disease
presence of acute thrombosis (a blood clot) in the dural venous sinuses, which drain blood from the brain.
DOID:3572
C10.228.140.300.525.425.500 C14.907.253.566.350.500 C14.907.355.590.213.350.500
Cerebral venous sinus thrombosis
cerebral ventricle cancer class of disease cerebrum cancer cerebral ventricle neoplasm cerebrum cancer that is located in the cerebral ventricles
DOID:3541
cerebritis
class of disease encephalopathy brain inflammatory disease Human disease
DOID:3431
cerebrooculofacioskeletal syndrome class of disease Cockayne syndrome
human disease
DOID:0080910
cerebrooculofacioskeletal syndrome 1 class of disease
human disease
DOID:0080911
cerebrovascular benign neoplasm class of disease cardiovascular organ benign neoplasm cerebrovascular disease
cardiovascular organ benign neoplasm that is located in the cerebrovascular system
DOID:60007
cerebrovascular disease
class of disease central nervous system disease vascular disease encephalopathy central nervous system and retinal vascular disease disease
artery disease that is characterized by dysfunction of the blood vessels supplying the brain
DOID:6713
C10.228.140.300 C14.907.253
Cerebrovascular diseases
cerebrum cancer class of disease supratentorial cancer neoplasm of cerebral hemisphere supratentorial cancer that is located in the cerebrum
DOID:368
ceruminoma
class of disease apocrine sweat gland neoplasm ceruminous tumor apocrine adenoma Human disease
DOID:7549
cervical Mullerian papilloma class of disease cervical benign neoplasm Human disease
DOID:9442
cervical Wilms' tumor class of disease cervical carcinosarcoma cervical carcinosarcoma is located in the cervix with morphological features resembling Wilms tumor of the kidney
DOID:5190
cervical adenocarcinoma class of disease cervix carcinoma adenocarcinoma
cervix carcinoma that derives from epithelial cells of glandular origin
DOID:3702
Adenocarcinoma of the cervix
cervical adenofibroma class of disease cervical benign neoplasm Human disease
DOID:5476
cervical adenoid basal carcinoma class of disease cervix carcinoma Human disease
DOID:6428
cervical adenoid cystic carcinoma class of disease cervix carcinoma adenoid cystic carcinoma of the cervix uteri Human disease
DOID:4867
cervical adenoma malignum class of disease cervical mucinous adenocarcinoma Human disease
DOID:6627
cervical adenomyoma class of disease adenomyoma cervical uterine cancer cervical benign neoplasm Human disease
DOID:4995
cervical adenosarcoma class of disease cervical carcinosarcoma malignant mixed epithelial and mesenchymal tumor of cervix uteri adenosarcoma cervical carcinosarcoma that is located in the cervix
DOID:4111
cervical adenosquamous carcinoma class of disease adenosquamous carcinoma cervical squamous cell carcinoma squamous cell carcinoma cervical uterine cancer
cervical carcinoma that derives from squamous cells and gland-like cells
DOID:5636
cervical alveolar soft part sarcoma class of disease cervical uterine cancer
alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located in the cervix
DOID:4442
cervical atypical polypoid adenomyoma class of disease cervical adenomyoma Human disease
DOID:8179
cervical basaloid squamous cell carcinoma class of disease cervical squamous cell carcinoma basaloid squamous cell carcinoma Human disease
DOID:7046
cervical benign neoplasm class of disease uterine benign neoplasm cervix disease uterine cervix neoplasm Human disease
DOID:0060110
cervical carcinosarcoma class of disease cervical uterine cancer malignant mixed epithelial and mesenchymal tumor of cervix uteri Human disease
DOID:4112
cervical clear cell adenocarcinoma class of disease cervical adenocarcinoma clear cell adenocarcinoma
Human disease
DOID:5303
cervical dystonia
class of disease focal dystonia
human disease
DOID:0050840
cervical endometrial stromal sarcoma class of disease cervix endometrial stromal tumor Human disease
DOID:4520
cervical endometrioid adenocarcinoma class of disease cervical adenocarcinoma endometrial carcinoma Human disease
DOID:5830
cervical incompetence
class of disease abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium cervix disease disease
cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term
DOID:9681 DOID:9678
C12.050.351.500.852.593.120 C12.050.703.039.089.339 C12.100.250.852.593.120
cervical keratinizing squamous cell carcinoma class of disease cervical squamous cell carcinoma keratinizing squamous cell carcinoma Human disease
DOID:7483
cervical large cell neuroendocrine carcinoma class of disease cervix carcinoma Human disease
DOID:6659
cervical lymphoepithelioma-like carcinoma class of disease cervical squamous cell carcinoma Human disease
DOID:7598
cervical mucinous adenocarcinoma class of disease cervical adenocarcinoma mucinous adenocarcinoma Human disease
DOID:3701
cervical neuroblastoma class of disease extracranial neuroblastoma extracranial neuroblastoma that has material basis in immature nerve cells
DOID:0050935
cervical non-keratinizing squamous cell carcinoma class of disease cervical squamous cell carcinoma Human disease
DOID:7961
cervical polyp
class of disease cervix disease Uterine polyp cervix disease characterized by a benign polyp on the surface of the cervical canal
DOID:0060325
Cervical polyp
cervical serous adenocarcinoma class of disease cervical adenocarcinoma serous cystadenocarcinoma
Human disease
DOID:5752
cervical spinal canal and spinal cord meningioma class of disease spinal canal and spinal cord meningioma Human disease
DOID:7915
cervical squamous cell carcinoma class of disease cervix carcinoma squamous cell carcinoma
cervix carcinoma that has material basis in squamous cells of the cervix
DOID:3744
cervical uterine cancer
class of disease uterine cancer cervix disease uterine cervix neoplasm disease
cancer arising from the cervix
DOID:4362
Cervical cancer
cervical verrucous carcinoma class of disease cervical squamous cell carcinoma papillary carcinoma of the cervix uteri verrucous carcinoma
Human disease
DOID:3743
cervicitis
class of disease cervix disease disease
inflammation of the uterine cervix
DOID:2568
C13.351.500.852.593.150
Cervicitis
cervicomedullary junction neoplasm class of disease infratentorial cancer Spinal cord cancer Human disease
DOID:4707
cervix carcinoma class of disease cervical uterine cancer carcinoma
cervical cancer that is located in the cervix uteri or located in the cervical area and that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:2893
cervix disease class of disease uterine disease human disease
DOID:2253
C13.351.500.852.593
Diseases and disorders of cervix uteri
cervix endometrial stromal tumor class of disease cervical uterine cancer
Human disease
DOID:4521
cervix endometriosis class of disease cervix disease endometriosis
Human disease
DOID:361
cervix erosion
class of disease cervix disease disease
ectropion
DOID:3456
C13.351.500.852.593.112
Cervical ectropion
cervix melanoma class of disease cervical uterine cancer mucosal melanoma
Human disease
DOID:4413
cervix small cell carcinoma class of disease cervix carcinoma small cell carcinoma
Human disease
DOID:6740
cervix squamous papilloma class of disease cervical benign neoplasm papilloma
Human disease
DOID:9445
cervix uteri carcinoma in situ class of disease cervical intraepithelial neoplasia cervix disease uterus carcinoma in situ Human disease
DOID:8991
cheilitis
class of disease lip disease inflammation
inflammation of the lips
DOID:1762
C07.465.409.215
Cheilitis
chemical colitis
class of disease colitis
colitis caused by introduction of various chemicals
DOID:0060186
cherry allergy class of disease fruit allergy
fruit allergy triggered by Prunus avium plant fruit food product.
DOID:0060506
chest wall bone cancer class of disease bone cancer chest wall lymphoma bone cancer and malignant neoplasm of chest wall that is located in the chest wall
DOID:6579
chest wall lymphoma class of disease malignant neoplasm of chest wall thoracic cancer lymphoma
thoracic cancer that is located in the chest wall
DOID:6758
chest wall parachordoma class of disease parachordoma chest wall lymphoma neoplasm of chest wall mesenchymal cell neoplasm Human disease
DOID:8043
chiasmal syndrome
class of disease optic nerve disease encephalopathy
optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve
DOID:5655
chicken egg allergy class of disease egg allergy
egg allergy triggered by Gallus gallus eggs
DOID:0060492
chief cell adenoma class of disease parathyroid adenoma
Human disease
DOID:7607
childhood absence epilepsy
class of disease symptom or sign
absence seizure childhood electroclinical syndrome Idiopathic generalized epilepsy generalized seizure childhood electroclinical syndrome characterized by the occurrence of typical absence seizures, starting between the age of four and ten years
DOID:1825
childhood acute lymphocytic leukemia class of disease acute lymphocytic leukemia childhood leukemia
acute lymphocytic leukemia occuring during childhood
DOID:0080144
childhood acute megakaryoblastic leukemia class of disease acute megakaryoblastic leukemia
disease
DOID:0080794
childhood acute myeloid leukemia class of disease childhood leukemia bilineal acute myeloid leukemia acute myeloid leukemia
Acute myeloid leukemia occurring in childhood
DOID:0070323
childhood asthma class of disease asthma chronic asthma human disease
DOID:0080815
childhood botryoid rhabdomyosarcoma class of disease botryoid embryo rhabdomyosarcoma Childhood Rhabdomyosarcoma rare childhood malignant neoplasm Human disease
DOID:6786
childhood brain germinoma class of disease brain germinoma childhood central nervous system germinoma Human disease
DOID:7429
childhood brain meningioma class of disease brain meningioma rare childhood malignant neoplasm pediatric meningioma Human disease
DOID:6939
childhood brain stem glioma class of disease childhood brain stem neoplasm Brainstem glioma rare childhood malignant neoplasm Human disease
DOID:6383
childhood brain stem neoplasm class of disease brain stem neoplasm childhood cancer childhood infratentorial neoplasm brain stem cancer Human disease
DOID:4206
childhood brainstem astrocytoma class of disease childhood brain stem glioma brain stem astrocytic neoplasm human disease
DOID:6386
childhood central nervous system germinoma class of disease central nervous system germinoma malignant childhood germ cell neoplasm Human disease
DOID:8078
childhood central nervous system immature teratoma class of disease central nervous system immature teratoma Human disease
DOID:6654
childhood central nervous system mature teratoma class of disease central nervous system mature teratoma pediatric central nervous system tumor Human disease
DOID:6423
childhood central nervous system mixed germ cell tumor class of disease central nervous system childhood germ cell tumor malignant childhood germ cell neoplasm mixed germ cell tumor of central nervous system rare childhood malignant neoplasm brain cancer Human disease
DOID:7516
childhood central nervous system primitive neuroectodermal neoplasm class of disease central nervous system primitive neuroectodermal neoplasm childhood cancer
Human disease
DOID:3870
childhood cerebellar astrocytic neoplasm class of disease cerebellar astrocytoma childhood cerebellar neoplasm juvenile astrocytoma Human disease
DOID:6286
childhood cerebellar neoplasm class of disease cerebellum cancer childhood infratentorial neoplasm Human disease
DOID:5059
childhood cerebral astrocytoma class of disease cerebrum cancer juvenile astrocytoma Human disease
DOID:7007
childhood choriocarcinoma of the ovary class of disease choriocarcinoma of ovary rare childhood malignant neoplasm non-gestational ovarian choriocarcinoma malignant childhood germ cell neoplasm pediatric ovarian germ cell tumor Human disease
DOID:8336
childhood choriocarcinoma of the testis class of disease choriocarcinoma of the testis rare childhood malignant neoplasm malignant childhood germ cell neoplasm pediatric testicular germ cell tumor Human disease
DOID:6160
childhood choroid plexus cancer class of disease childhood cancer childhood choroid plexus neoplasm choroid plexus neoplasm
Human disease
DOID:3545
childhood disintegrative disease
class of disease pervasive developmental disorder disease
neurodevelopmental condition
DOID:13487
childhood electroclinical syndrome class of disease electroclinical syndrome Epilepsy in children absence seizure
electroclinical syndrome with onset in childhood between one and 12 years of age
DOID:0050704
childhood embryonal testis carcinoma class of disease embryonal testis carcinoma rare childhood malignant neoplasm malignant childhood germ cell neoplasm pediatric testicular germ cell tumor embryonal testis carcinoma that occurs in children
DOID:6162
childhood endodermal sinus tumor class of disease endodermal sinus tumor rare childhood malignant neoplasm malignant childhood germ cell neoplasm endodermal sinus tumor that occurs in children
DOID:5342
childhood extraosseous osteosarcoma class of disease extraosseous osteosarcoma pediatric osteosarcoma Human disease
DOID:7297
childhood germ cell brain tumor class of disease central nervous system childhood germ cell tumor brain cancer Human disease
DOID:7430
childhood hypophosphatasia class of disease hypophosphatasia
A hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12.
DOID:0110915
childhood immature teratoma of ovary class of disease immature teratoma of ovary rare childhood malignant neoplasm malignant childhood germ cell neoplasm childhood teratoma of the ovary Human disease
DOID:7037
childhood infratentorial neoplasm class of disease brain stem cancer infratentorial cancer childhood neoplasm childhood brain tumor Human disease
DOID:4207
childhood intracortical osteosarcoma class of disease pediatric osteosarcoma intracortical osteogenic sarcoma human disease
DOID:7612
childhood kidney angiomyolipoma class of disease childhood kidney neoplasm kidney angiomyolipoma Human disease
DOID:8410
childhood kidney cell carcinoma class of disease renal cell carcinoma rare childhood malignant neoplasm childhood malignant kidney neoplasm Human disease
DOID:4454
childhood kidney neoplasm class of disease kidney neoplasm childhood neoplasm kidney cancer
Human disease
DOID:3675
childhood leukemia
class of disease leukemia childhood cancer rare childhood malignant neoplasm bone marrow cancer leukemia that occurs in children
DOID:7757
childhood malignant hemangiopericytoma class of disease hemangiopericytoma hemangiopericytoma, malignant Human disease
DOID:7731
childhood malignant mesenchymoma class of disease malignant mesenchymoma childhood cancer
Human disease
DOID:5893
childhood malignant schwannoma class of disease malignant peripheral nerve sheath tumor neurilemmoma rare childhood malignant neoplasm Human disease
DOID:7732
childhood mature teratoma of the ovary class of disease childhood teratoma of the ovary mature teratoma of the ovary Human disease
DOID:6229
childhood mediastinal neurogenic tumor class of disease malignant mediastinal neurogenic neoplasm childhood neoplasm Human disease
DOID:4690
childhood medulloblastoma class of disease medulloblastoma childhood infratentorial neoplasm Human disease
DOID:3869
childhood multilocular cystic kidney neoplasm class of disease kidney benign neoplasm childhood kidney neoplasm multiloculated renal cyst A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN).
DOID:7762
childhood oligodendroglioma class of disease oligodendroglioma
Human disease
DOID:3183
childhood onset epileptic encephalopathy class of disease generalized epilepsy Epilepsy in children
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
DOID:0060475
childhood optic nerve glioma class of disease optic nerve glioma
human disease
DOID:6576
childhood ovarian embryonal carcinoma class of disease ovarian embryonal carcinoma pediatric ovarian germ cell tumor rare childhood malignant neoplasm malignant childhood germ cell neoplasm ovarian embryonal carcinoma that occurs in childhood
DOID:8036
childhood ovarian endodermal sinus tumor class of disease ovarian endodermal sinus tumor pediatric ovarian germ cell tumor childhood endodermal sinus tumor Human disease
DOID:6083
childhood parosteal osteogenic sarcoma class of disease juxtacortical osteosarcoma pediatric osteosarcoma Human disease
DOID:5809
childhood pilocytic astrocytoma class of disease pilocytic astrocytoma
Human disease
DOID:6812
childhood pleomorphic rhabdomyosarcoma class of disease pleomorphic rhabdomyosarcoma Childhood Rhabdomyosarcoma rare childhood malignant neoplasm Human disease
DOID:7463
childhood spinal cord tumor class of disease Spinal cord cancer childhood cancer
Human disease
DOID:3637
childhood teratocarcinoma of the testis class of disease childhood testicular mixed germ cell tumor Human disease
DOID:6474
childhood teratoma of the ovary class of disease ovarian germ cell teratoma pediatric ovarian germ cell tumor Human disease
DOID:6230
childhood testicular mixed germ cell tumor class of disease mixed testicular germ cell tumor rare childhood malignant neoplasm malignant childhood germ cell neoplasm pediatric testicular germ cell tumor Human disease
DOID:6161
childhood type dermatomyositis
class of disease dermatomyositis
Human disease
DOID:14203
childhood vagina botryoid rhabdomyosarcoma class of disease vagina botryoid rhabdomyosarcoma childhood botryoid rhabdomyosarcoma Human disease
DOID:6787
chloramine T respiratory allergy class of disease metal allergy respiratory allergy respiratory allergy that has allergic trigger chloramine T
DOID:0040062
chlorhexidine allergy class of disease drug allergy
drug allergy that has allergic trigger chlorhexidine
DOID:0040026
cholangiocarcinoma
class of disease bile duct adenocarcinoma disease
bile duct adenocarcinoma that has material basis in bile duct epithelial cells.
DOID:4947
C04.557.470.200.025.450
Cholangiocarcinoma
cholangiolocellular carcinoma class of disease intrahepatic cholangiocarcinoma rare parenchymal liver disease Human disease
DOID:7642
cholecystitis
class of disease symptom or sign
ascending cholangitis disease
cholangitis that is characterized by an inflammation that is located in the gallbladder
DOID:1949
C06.130.564.263
Cholecystitis
cholecystolithiasis class of disease gallbladder disease gallstone
Human disease
DOID:11151
C06.130.409.178 C06.130.564.332
choledochal cyst
class of disease bile duct disease disease
congenital disorder of digestive system
DOID:899
C04.182.198 C06.130.120.127 C06.198.184 C16.131.314.184
Choledochal cysts
choledocholithiasis
class of disease gallbladder disease common bile duct disease endocrine system disease disease
Human disease
DOID:11755
C06.130.120.250.174 C06.130.409.267
Choledocholithiasis
cholelithiasis
class of disease gallbladder disease disease
Human disease
DOID:10211
C06.130.409
Cholelithiasis
cholestasis
class of disease bile duct disease disease
Human disease
DOID:13580
C06.130.120.135
Cholestasis
cholesteatoma
class of disease keratosis disease
keratosis characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction
DOID:869
C17.800.428.260
Cholesteatoma
cholesterol embolism
class of disease vascular disease embolism
vascular disease with blood vessel obstruction resulting from the release of cholesterol
DOID:1461
C14.907.355.350.454.500
Cholesterol embolism
choline deficiency disease class of disease nutritional deficiency disease Human disease
DOID:8456
C18.654.521.500.133.699.160
cholinergic urticaria
class of disease physical urticaria disease
urticaria induced by sweating
DOID:14443
chondroblastic osteosarcoma class of disease osteosarcoma
Human disease
DOID:3372
chondroblastoma
class of disease connective tissue neoplasm connective tissue benign neoplasm benign neoplasms by histologic type disease
Human disease
DOID:2649
C04.557.450.565.250
Chondroblastoma
chondrodysplasia with joint dislocations gPAPP type class of disease autosomal recessive disease osteochondrodysplasia
human disease
DOID:0112224
chondroid chordoma class of disease chordoma
chordoma that histologically derives from chordoma, derives from chondroma, and derives from chondrosarcoma
DOID:4152
chondroid lipoma
class of disease lipoma
lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women
DOID:10208
chondroid syringoma of the vulva class of disease eccrine mixed tumor of skin vulvar benign neoplasm Human disease
DOID:2078
chondroma
class of disease benign neoplasms by histologic type cartilage tumor disease
cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern
DOID:2602
C04.557.450.565.265
Chondroma
chondromalacia class of disease articular cartilage disease
DOID:2557
chondropathy
class of disease osteochondropathy connective tissue disease disease
human disease
DOID:1222
C05.182 C17.300.182
Chondropathies
chordoid meningioma class of disease clear cell meningioma Human disease
DOID:8368
chordoma
class of disease notochordal cancer disease
notochordal cancer that derives from cellular remnants of the notochord
DOID:3302
C04.557.465.220
Chordoma
chorea gravidarum
class of disease choreatic disease complications of pregnancy disease
Human disease
DOID:14483
C10.228.140.079.294 C10.228.662.262.249.500 C13.703.141
chorioamnionitis
class of disease placenta disease disease
placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection
DOID:0050697
C13.703.277.030 C13.703.420.339.260 C13.703.590.268 C16.300.030
Chorioamnionitis
chorioangioma
class of disease placenta disease uterine benign neoplasm hemangioma
Human disease
DOID:277
Chorangioma
choriocarcinoma
class of disease placenta cancer trophoblastic neoplasm disease
Human disease
DOID:3594
C04.557.465.955.207 C04.557.470.200.025.455 C04.850.908.208 C13.703.720.949.208
Choriocarcinoma
choriocarcinoma of ovary class of disease malignant ovarian germ cell neoplasm non-gestational choriocarcinoma choriocarcinoma
Human disease
DOID:5550
choriocarcinoma of the testis class of disease non-gestational choriocarcinoma testicular non-seminomatous germ cell cancer choriocarcinoma
Human disease
DOID:5551
chorioretinal scar class of disease retinal disease scar
Human disease
DOID:11086
chorioretinitis
class of disease symptom or sign
eye disease uveitis disease
inflammation of the choroid
DOID:8886
C11.768.773.348 C11.941.160.478.400 C11.941.879.780.900.300.318
Chorioretinitis
choroid cancer class of disease uveal cancer choroid neoplasm choroid disease Human disease
DOID:12759
choroid disease class of disease uveal disease human disease
DOID:1417
C11.941.160
choroid plexus carcinoma
class of disease choroid plexus neoplasm carcinoma
choroid plexus cancer that has material basis in epithelial cells of the choroid plexus
DOID:5648
Choroid plexus carcinoma
choroid plexus meningioma class of disease choroid plexus neoplasm meningioma cerebral meningioma Human disease
DOID:4584
choroid plexus neoplasm
class of disease cerebral ventricle neoplasm cerebral ventricle cancer cerebral ventricle neoplasm that is located in the plexus located in the ventricles of the brain
DOID:3540
C04.588.614.250.195.205.200 C10.228.140.211.280.300 C10.551.240.250.200.200
Choroid plexus cancers
choroid plexus papilloma
class of disease papilloma choroid plexus neoplasm cerebrovascular benign neoplasm Benign brain tumor
DOID:2626
C04.588.614.250.195.205.200.500 C10.228.140.211.280.300.500 C10.551.240.250.200.200.500
Choroid plexus papilloma
choroidal sclerosis class of disease eye degenerative disease choroid disease neurodegenerative disease that involves the optic choroid
DOID:980
choroiditis class of disease choroid disease uveitis
inflammation of the choroid
DOID:11406
C11.941.160.478 C11.941.879.780.900.300
chromium allergic contact dermatitis class of disease allergic contact dermatitis metal allergy
allergic contact dermatitis that has allergic trigger chromium atom
DOID:0040056
chromophobe renal cell carcinoma class of disease renal cell carcinoma
renal cell carcinoma that has material basis in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells
DOID:4471
Chromophobe renal cell carcinoma
chromosomal deletion syndrome
class of disease chromosomal disease Human disease
DOID:0060388
C23.550.210.050.500.500 G05.365.590.029.530.175 G05.365.590.175.050.500.500 G05.365.590.762.180 G05.558.800.180 G05.700.131.500.500
Chromosome deletion
chromosomal duplication syndrome class of disease chromosomal disease Human disease
DOID:0060429
C23.550.210.182
chromosome 10q23 deletion syndrome class of disease chromosomal deletion syndrome partial monosomy of the long arm of chromosome 10 Human disease
DOID:0060389
chromosome 13q14 deletion syndrome class of disease chromosomal deletion syndrome autosomal dominant disease Human disease
DOID:0060391
chromosome 17p13.1 deletion syndrome class of disease chromosomal deletion syndrome classical lissencephalies and subcortical band heterotopias autosomal dominant disease partial monosomy of the short arm of chromosome 17 Human disease
DOID:0060402
chromosome 18p deletion syndrome
class of disease chromosomal deletion syndrome autosomal dominant disease human disease
DOID:0060406
chromosome 18q deletion syndrome
class of disease chromosomal deletion syndrome partial deletion of the long arm of chromosome 18 autosomal dominant disease human disease
DOID:0060407
Distal 18q-
chromosome 19p13.13 deletion syndrome class of disease chromosomal deletion syndrome autosomal dominant disease partial deletion of the short arm of chromosome 19 Human disease
DOID:0060426
chromosome 1q41-q42 deletion syndrome class of disease chromosomal deletion syndrome
Human disease
DOID:0060412
chromosome 3-linked frontotemporal dementia class of disease frontotemporal dementia
A frontotemporal dementia that has material basis in heterozygous mutation in CHMP2B on 3p11.2.
DOID:0111227
chromosome Xp11.22 duplication syndrome class of disease partial duplication of the short arm of chromosome X non-syndromic X-linked intellectual disability human disease
DOID:0112037
chronic NK-cell lymphocytosis class of disease type IV hypersensitivity mature T-cell neoplasm Human disease
DOID:7465
chronic apical periodontitis class of disease periapical periodontitis
Human disease
DOID:11269
chronic asthma class of disease asthma
human disease
DOID:0080809
chronic atticoantral disease class of disease chronic purulent otitis media Human disease
DOID:14248
chronic cervicitis class of disease cervicitis
Human disease
DOID:1513
chronic cholangitis class of disease ascending cholangitis
Human disease
DOID:9439
chronic closed-angle glaucoma class of disease primary angle-closure glaucoma Human disease
DOID:14445
chronic conjunctivitis class of disease conjunctivitis
Human disease
DOID:2475
chronic cystitis class of disease cystitis chronic condition
Recurrent infections of the urinary bladder
DOID:1680
Chronic cystitis
chronic dacryoadenitis class of disease dacryoadenitis
Human disease
DOID:949
chronic dacryocystitis class of disease chronic inflammation of lacrimal passage dacryocystitis
Human disease
DOID:9937
chronic duodenal ileus class of disease duodenal obstruction Human disease
DOID:13687
chronic eosinophilic leukemia
class of disease chronic leukemia eosinophilic leukemia human disease
DOID:0080367
chronic ethmoiditis class of disease ethmoid sinusitis chronic rhinosinusitis ethmoid sinusitis which lasts for 12 weeks or more
DOID:9312
chronic eustachian salpingitis class of disease otosalpingitis otosalpingitis which is persistent and long-lasting
DOID:1999
chronic fatigue syndrome
class of disease symptom or sign
syndrome primary immunodeficiency disease disease
medical condition involving extreme fatigue and a wide range of other symptoms
DOID:8544
C02.330 C05.651.310 C10.228.440.600 C10.668.364
chronic follicular conjunctivitis class of disease chronic conjunctivitis Human disease
DOID:13326
chronic frontal sinusitis class of disease frontal sinusitis chronic condition
frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.
DOID:10790
chronic fungal otitis externa class of disease otomycosis fungal infectious disease
otomycosis which is persistent and long-lasting or recurrent
DOID:10519
chronic gastritis
class of disease gastritis stomach disease
Inflammation of the stomach that is chronic in nature
DOID:4029
chronic gonococcal salpingitis class of disease chronic salpingitis gonococcal infectious diseases Human disease
DOID:12718
chronic gonorrhea of cervix class of disease chronic cervicitis gonococcal infectious diseases Human disease
DOID:1512
chronic inducible urticaria class of disease chronic urticaria human disease
DOID:0080748
C17.800.862.945.533.500 C20.543.480.904.533.500 C23.550.291.500.360.500
chronic inflammation of lacrimal passage class of disease chronic inflammatory response lacrimal apparatus disease Human disease
DOID:9935
chronic inflammatory demyelinating polyneuritis class of disease inflammatory and toxic neuropathy chronic inflammatory demyelinating polyradiculoneuropathy demyelinating polyneuropathy An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.
DOID:2536
chronic interstitial cystitis class of disease interstitial cystitis chronic cystitis human disease
DOID:1678
chronic intestinal vascular insufficiency class of disease intestinal disease
Human disease
DOID:8633
chronic lacrimal gland enlargement class of disease dacryoadenitis
Human disease
DOID:12809
chronic laryngitis class of disease laryngitis
A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.
DOID:11797
chronic leukemia
class of disease leukemia
broad type of leukemia; disjoint with acute leukemia
DOID:1036
Chronic leukemias
chronic lymphocytic leukemia
class of disease symptom or sign
lymphoblastic leukemia chronic leukemia small lymphocytic lymphoma lymphoma leukemia disease
lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood
DOID:1040
C04.557.337.428.080.125 C15.604.515.560.080.125 C20.683.515.528.080.125 C15.378.508.428.080.125 C23.550.291.500.483
Chronic lymphocytic leukemia
chronic lymphocytic leukemia and small lymphocytic lymphoma class of disease chronic lymphocytic leukemia
chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes
DOID:6354
chronic maxillary sinusitis class of disease maxillary sinusitis chronic condition
maxillary sinusitis which lasts for 12 weeks or more
DOID:10792
chronic meningitis
class of disease meningitis
Human disease
DOID:10341
chronic metabolic polyneuropathy class of disease chronic polyneuropathy Human disease
DOID:7441
chronic monocytic leukemia class of disease monocytic leukemia chronic myelomonocytic leukemia
human disease
DOID:8593
chronic myeloid leukemia
class of disease myeloid leukemia chronic leukemia disease
myeloid leukemia that is characterized by over production of white blood cells
DOID:8552
C04.557.337.539.250 C15.378.190.636.370
Chronic myeloid leukemia
chronic myelomonocytic leukemia
class of disease monocytic leukemia chronic myeloid leukemia chronic leukemia
chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood
DOID:0080188
C04.557.337.539.522 C15.378.190.615.510 C15.378.508.539.522 C23.550.291.500.495
Chronic myelomonocytic leukemia
chronic neutrophilic leukemia
class of disease myeloproliferative disorders chronic leukemia
chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene
DOID:0080187
C15.378.190.636.380
chronic obstructive pulmonary disease
class of disease obstructive lung disease disease
lung disease involving long-term poor airflow
DOID:3083
C08.381.495.389 C23.550.291.500.875
Chronic obstructive pulmonary disease
chronic orbital inflammation class of disease orbital disease chronic inflammatory response Human disease
DOID:1397
chronic perichondritis of pinna class of disease perichondritis of auricle pinna disease perichondritis of auricle which is persistent and long-lasting
DOID:14243
chronic polyneuropathy class of disease polyneuropathy
Human disease
DOID:5221
chronic pulmonary eosinophilia class of disease eosinophilic pneumonia
An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease.
DOID:9502
chronic pulmonary heart disease class of disease cor pulmonale
Human disease
DOID:12326
chronic purulent otitis media class of disease suppurative otitis media chronic otitis media suppurative otitis media which is persistent and long-lasting
DOID:14247
chronic pyelonephritis class of disease pyelonephritis
Human disease
DOID:1076
Chronic pyelonephritis
chronic rapidly progressive glomerulonephritis class of disease glomerulonephritis rapidly progressive glomerulonephritis
Human disease
DOID:11036
chronic rheumatic pericarditis class of disease pericarditis rheumatic heart disease human disease
DOID:1869 DOID:14044
chronic salpingitis class of disease salpingitis
Human disease
DOID:5731
chronic salpingo-oophoritis class of disease salpingo-oophoritis Human disease
DOID:12265
chronic sphenoidal sinusitis class of disease sphenoid sinusitis chronic condition
sphenoid sinusitis which lasts for 12 weeks or more
DOID:10793
chronic spontaneous urticaria
class of disease chronic urticaria idiopathic urticaria human disease
DOID:0080749
Chronic spontaneous urticaria
chronic subinvolution of uterus class of disease uterine disease Human disease
DOID:13811
chronic toxic polyneuropathy class of disease chronic polyneuropathy Human disease
DOID:7825
chronic tubotympanic suppurative otitis media class of disease chronic purulent otitis media suppurative otitis media Human disease
DOID:14435
chronic tympanitis class of disease tympanic membrane disease myringitis Human disease
DOID:11217
chronic ulcer of skin class of disease symptom or sign
skin disease ulcer
human disease
DOID:8549
chronic urticaria class of disease urticaria
urticaria with symptoms lasting for more than 6 weeks
DOID:0080747
C17.800.862.945.533 C20.543.480.904.533
chronic venous insufficiency
class of disease venous insufficiency disease
Human disease
DOID:0050853
Chronic venous insufficiency
chronic wasting disease
class of disease animal disease transmissible spongiform encephalopathy
animal disease
DOID:3530
C10.228.228.800.858 C10.574.843.925 C22.955 C01.207.800.858
Chronic wasting disease
chylocele of tunica vaginalis class of disease male reproductive system disease
Human disease
DOID:10835
cicatricial ectropion class of disease ectropion
Human disease
DOID:12782
cicatricial entropion class of disease entropion
Human disease
DOID:13113
cicatricial lagophthalmos class of disease lagophthalmos
Human disease
DOID:13038
cicatricial pemphigoid
class of disease bullous skin disease pemphigoid eye inflammation autoimmune disease of musculoskeletal system autoimmune blistering disease
DOID:11656
C11.187.482 C17.800.865.670
ciliary body cancer class of disease iris cancer ciliary body neoplasm ciliary body disease Human disease
DOID:4352
ciliary body disease class of disease iris disease Human disease
DOID:4353
citrullinemia type I
class of disease citrullinemia
medical condition
DOID:0070340
classic congenital mesoblastic nephroma class of disease congenital mesoblastic nephroma Human disease
DOID:8083
classic pulmonary blastoma class of disease pulmonary blastoma Human disease
DOID:4767
classic type lipoma class of disease lipoma
Human disease
DOID:10193
classic variant of chromophobe renal cell carcinoma class of disease chromophobe renal cell carcinoma Human disease
DOID:6605
clear cell acanthoma
class of disease skin benign neoplasm acanthoma
Human disease
DOID:172
clear cell adenocarcinoma
class of disease adenocarcinoma clear cell carcinoma
adenocarcinoma that derives from epithelial cells which have clear cytoplasm
DOID:4468
C04.557.470.200.025.045
clear cell adenofibroma class of disease adenofibroma benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma
DOID:5477
clear cell adenoma class of disease adenoma
adenoma that is composed of cells with a clear cytoplasm located in ovary
DOID:5390
clear cell basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4293
clear cell carcinoma
class of disease carcinoma connective tissue benign neoplasm clear-cell tumor sarcoma
carcinoma (i.e. not a sarcoma) showing clear cells
DOID:4233
clear cell chondrosarcoma class of disease chondrosarcoma
Human disease
DOID:5867
C04.557.450.565.280.140 C04.557.450.795.300.140
clear cell cystadenofibroma class of disease cystadenofibroma clear cell adenofibroma benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells
DOID:5895
clear cell ependymoma class of disease benign ependymoma ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo
DOID:5507
clear cell hidradenoma class of disease hidradenoma clear cell adenoma Human disease
DOID:5443
clear cell meningioma class of disease meningioma
Human disease
DOID:4210
clear cell squamous cell skin carcinoma class of disease cutaneous squamous-cell carcinoma clear cell carcinoma keratinizing squamous cell carcinoma Human disease
DOID:8288
clear cell variant infiltrating bladder urothelial carcinoma class of disease invasive bladder transitional cell carcinoma Human disease
DOID:6476
clear-cell ovarian carcinoma
class of disease ovarian carcinoma clear cell carcinoma ovarian clear cell tumor ovarian carcinoma that has material basis in cells with clear cytoplasm and glycogen secreting hob nail cells
DOID:0050934 DOID:5305
Clear-cell ovarian carcinoma
cleft lip class of disease lip disease cleft lip and cleft palate
human disease
DOID:9296
C07.465.409.225 C07.465.525.164 C07.650.525.164 C16.131.850.525.164
cleft palate class of disease cleft lip and cleft palate
orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate
DOID:674
C05.500.460.185 C05.660.207.540.460.185 C07.320.440.185 C07.465.525.185 C07.650.500.460.185 C07.650.525.185 C16.131.621.207.540.460.185 C16.131.850.500.460.185 C16.131.850.525.185
Cleft palate
cleft soft palate class of disease cleft palate Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate
DOID:0110214
clitoris cancer class of disease clitoris neoplasm human disease
DOID:2401
cloacogenic carcinoma class of disease anal squamous cell carcinoma anal canal carcinoma Human disease
DOID:7173
co-trimoxazole allergy class of disease drug allergy
drug allergy that has allergic trigger co-trimoxazole
DOID:0040070
cobalt allergic asthma class of disease allergic asthma cobalt allergy metal allergy
allergic asthma that has allergic trigger cobalt atom
DOID:0040054
cobalt allergic contact dermatitis class of disease allergic contact dermatitis cobalt allergy metal allergy
allergic contact dermatitis that has allergic trigger cobalt atom
DOID:0040053
cobblestone retinal degeneration class of disease peripheral retinal degeneration Human disease
DOID:12166
cocaine dependence
class of disease cocaine-related disorder substance dependence substance abuse disease
drug dependence that is a psychological dependency on the regular use of cocaine
DOID:9975 DOID:809
coccidioidomycosis
class of disease primary systemic mycosis disease
fungal infection
DOID:13450
C01.150.703.203
Coccidioidomycosis
coenurosis
class of disease parasitic helminthiasis infectious disease Coenurosis skin disease central nervous system disease
Human disease
DOID:0050251
cognitive disorder
class of disease mental disorder organic brain syndrome
disease of mental health that affects cognitive functions including memory processing, perception and problem solving
DOID:1561
F03.615.250
Neurocognitive disorders
cold-induced sweating syndrome 1 class of disease cold-induced sweating syndrome human disease
DOID:0080329
cold-induced sweating syndrome 2 class of disease cold-induced sweating syndrome cold-induced sweating syndrome that has material basis in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13
DOID:0080330
cold-induced sweating syndrome 3; CISS3 class of disease cold-induced sweating syndrome human disease
DOID:0080331
colitis
class of disease inflammatory bowel diseases colonic disease disease
inflammation of the colon or the large intestine
DOID:0060180
C06.405.205.265 C06.405.469.158.188
Colitis
collagen disease
class of disease connective tissue disease
group of diseases affecting connective tissue
DOID:854
C17.300.200
Collagen diseases
collagenous colitis
class of disease microscopic colitis disease
colitis characterized by a distinctive thickening of the subepithelial collagen table
DOID:0060183
C06.405.205.265.173.500 C06.405.469.158.188.173.500
Collagenous colitis
colloid adenoma class of disease follicular adenoma Human disease
DOID:8419
colloid carcinoma of the pancreas class of disease pancreatic carcinoma Human disease
DOID:7717
coloboma of optic nerve
class of disease coloboma optic nerve disease visual pathway disease rare defect of the optic nerve that causes moderate to severe visual field defects.
DOID:11975
colon adenocarcinoma class of disease colon carcinoma adenocarcinoma
colon carcinoma that derives from epithelial cells of glandular origin
DOID:234
colon adenoma class of disease colonic benign neoplasm benign neoplasms by histologic type colorectal adenoma adenoma
colonic benign neoplasm that has material basis in epithelial tissue with glandular origin
DOID:0050912
colon carcinoma class of disease plump cancer carcinoma
colon cancer that has material basis in abnormally proliferating cells derives_from epithelial cells
DOID:1520
colon leiomyoma class of disease leiomyoma colonic benign neoplasm colonic disease Human disease
DOID:10656
Colonic leiomyoma
colon lymphoma class of disease plump cancer lymphoma colorectal lymphoma Human disease
DOID:1523
colon signet ring adenocarcinoma class of disease colon adenocarcinoma Human disease
DOID:3033
colonic benign neoplasm class of disease intestinal benign neoplasm colonic neoplasm lymphangioma colonic disease intestinal benign neoplasm that is located in the colon
DOID:235
colonic disease class of disease intestinal disease
pathological processes in the colon or large intestine
DOID:5353
C06.405.469.158
Diseases and disorders of colon
colonic lymphangioma class of disease colonic benign neoplasm Human disease
DOID:10657
color agnosia
class of disease agnosia visual agnosia
agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it
DOID:0060139
color blindness
class of disease vision disorder colour vision deficiency blindness disease
inability or decreased ability to see colour, or perceive colour differences, under normal lighting conditions
DOID:13399
C10.597.751.941.256 C11.966.256 C23.888.592.763.941.256 C11.270.151.500
Color blindness
colorectal adenocarcinoma class of disease colorectal carcinoma adenocarcinoma
colorectal cancer that derives from epithelial cells of glandular origin
DOID:0050861
Colorectal adenocarcinoma
colorectal adenoma
class of disease colonic benign neoplasm gastrointestinal adenoma colorectal polyp intestinal benign neoplasm adenoma
human disease
DOID:0050860
C04.557.470.035.215
colorectal cancer
class of disease colorectal neoplasm large intestine cancer disease
cancer of the colon or rectum
DOID:9256
Colorectal cancer
colorectal carcinoma class of disease colorectal cancer carcinoma
colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa
DOID:0080199
columnar cell variant papillary carcinoma class of disease papillary thyroid cancer
Human disease
DOID:7088
combat disorder
class of disease acute stress disorder post-traumatic stress disorder disease
acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress
DOID:6950
F03.950.750.249
Combat stress reaction
combined T cell and B cell immunodeficiency class of disease combined immunodeficiency
human disease
DOID:628
combined cellular and humoral immune defects with granulomas class of disease autosomal recessive disease combined immunodeficiency
human disease
DOID:0112253
combined oxidative phosphorylation deficiency 10 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111480
combined oxidative phosphorylation deficiency 11 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111481
combined oxidative phosphorylation deficiency 13 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111467
combined oxidative phosphorylation deficiency 14 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111477
combined oxidative phosphorylation deficiency 15 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111491
combined oxidative phosphorylation deficiency 16 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111469
combined oxidative phosphorylation deficiency 17 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111496
combined oxidative phosphorylation deficiency 18 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111484
combined oxidative phosphorylation deficiency 19 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111476
combined oxidative phosphorylation deficiency 2 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111483
combined oxidative phosphorylation deficiency 20 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111478
combined oxidative phosphorylation deficiency 21 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111465
combined oxidative phosphorylation deficiency 22 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111498
combined oxidative phosphorylation deficiency 23 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111500
combined oxidative phosphorylation deficiency 24 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111485
combined oxidative phosphorylation deficiency 27 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111489
combined oxidative phosphorylation deficiency 3 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111486
combined oxidative phosphorylation deficiency 31 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111488
combined oxidative phosphorylation deficiency 32 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111492
combined oxidative phosphorylation deficiency 33 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease
DOID:0111495
combined oxidative phosphorylation deficiency 34 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111497
combined oxidative phosphorylation deficiency 35 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111464
combined oxidative phosphorylation deficiency 36 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111482
combined oxidative phosphorylation deficiency 37 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111499
combined oxidative phosphorylation deficiency 38 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111466
combined oxidative phosphorylation deficiency 39 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111475
combined oxidative phosphorylation deficiency 4 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111494
combined oxidative phosphorylation deficiency 40 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0112117
combined oxidative phosphorylation deficiency 41 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0112119
combined oxidative phosphorylation deficiency 42 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0112118
combined oxidative phosphorylation deficiency 43 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0112116
combined oxidative phosphorylation deficiency 45 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0112113
combined oxidative phosphorylation deficiency 46 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0112115
combined oxidative phosphorylation deficiency 47 class of disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0112114
combined oxidative phosphorylation deficiency 48 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0112112
combined oxidative phosphorylation deficiency 49 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0112110
combined oxidative phosphorylation deficiency 5 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111473
combined oxidative phosphorylation deficiency 50 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0112111
combined oxidative phosphorylation deficiency 51 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0112137
combined oxidative phosphorylation deficiency 6 class of disease combined oxidative phosphorylation deficiency X-linked recessive disease human disease
DOID:0111502
combined oxidative phosphorylation deficiency 7 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111487
combined oxidative phosphorylation deficiency 8 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111479
combined oxidative phosphorylation deficiency 9 class of disease autosomal recessive disease combined oxidative phosphorylation deficiency human disease
DOID:0111472
combined thymoma class of disease thymoma
Human disease
DOID:3281
comedocarcinoma
class of disease intraductal carcinoma disease
carcinoma that is in situ
DOID:5670
commensal Klebsiella infectious disease class of disease klebsiellosis
Human disease
DOID:0050479
commensal bacterial infectious disease class of disease bacterial infectious disease Human disease
DOID:0050339
common bile duct disease class of disease bile duct disease Human disease
DOID:4137
C06.130.120.250
common bile duct neoplasm class of disease biliary tract neoplasm common bile duct disease human disease
DOID:4608
C04.588.274.120.250.250 C06.130.120.120.280 C06.130.120.250.280 C06.130.320.120.280 C06.301.120.250.250
common peroneal nerve lesion class of disease mononeuritis of lower limb Human disease
DOID:12527
common wart class of disease viral infectious disease wart
viral infectious disease that results in infection located in skin, has material basis in human papillomavirus (types 2 and 4)
DOID:11165
Verruca vulgaris
communicating hydrocephalus class of disease hydrocephalus
abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations
DOID:1573
compartment syndrome
class of disease ischemia disease
condition in which increased pressure within one of the body's compartments results in insufficient blood supply to tissue within that space
DOID:682
C05.651.180 C14.907.303
Compartment syndrome
complement component 5 deficiency class of disease complement deficiency
Human disease
DOID:8158
complement component 6 deficiency class of disease complement deficiency
Human disease
DOID:0060299
complement component 7 deficiency class of disease complement deficiency
Human disease
DOID:0060300
complement deficiency
class of disease primary immunodeficiency disease metabolic disease
primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation
DOID:626
Complement deficiencies
complete generalized lipodystrophy class of disease lipodystrophy
lipodystrophy that is characterized by complete loss of adipose tissue
DOID:0080298
complex cortical dysplasia with other brain malformations class of disease encephalopathy autosomal dominant disease human disease
DOID:0090131
complex partial seizure
class of disease symptom or sign
focal epilepsy focal seizure human disease
DOID:12382
C10.228.140.490.360.260
composite lymphoma class of disease B-cell lymphoma
lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time
DOID:5820
C04.557.386.150 C04.557.435.295 C15.604.515.569.150 C20.683.515.761.150
conduct disorder
class of disease specific developmental disorder behavioral disorder disease
specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated
DOID:12995
F03.625.094.300
cone-rod dystrophy class of disease retinal degeneration monogenic disease retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells
DOID:0050572
C11.270.152 C11.768.585.658.250 C16.320.290.152
cone-rod dystrophy 1 class of disease cone-rod dystrophy A cone-rod dystrophy that has material basis in variation in the chromosome region 18q21.1-q21.3.
DOID:0111009
cone-rod dystrophy 17 class of disease cone-rod dystrophy cone-rod dystrophy that has material basis in variation in the chromosome region 10q26
DOID:0111023
cone-rod dystrophy 8 class of disease cone-rod dystrophy cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24
DOID:0111014
congenital Zika virus infection class of disease Zika virus infection vertically transmitted infection syndrome infectious embryofetopathy human disease
DOID:0080180
congenital aphakia class of disease lens disease aphakia
Human disease
DOID:11367
congenital bile acid synthesis defect class of disease steroid inherited metabolic disorder bile acid synthesis defect with cholestasis and malabsorption congenital disorder
steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver
DOID:0050674
congenital chylothorax class of disease pleural disease chylothorax rare genetic respiratory disease primary interstitial lung disease specific to childhood due to alveolar vascular disorder pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life
DOID:0060646
congenital diarrhea class of disease diarrhea congenital disorder
diarrhea characterized by frequent loose or liquid bowel movements where the disease is present from birth
DOID:0060774
congenital disorder
class of disease disease
condition present at birth regardless of cause; human disease or disorder developed prior to birth
DOID:0080015 DOID:0060035
C16
Congenital diseases and disorders
congenital disorder of glycosylation 1cc class of disease X-linked recessive disease congenital disorder of glycosylation type I human disease
DOID:0111839
congenital disorder of glycosylation type I class of disease congenital disorder of glycosylation
congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor
DOID:0050570
congenital disorder of glycosylation type IIa class of disease congenital disorder of glycosylation type II autosomal recessive disease A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.
DOID:0070253
congenital disorder of glycosylation type IIq class of disease congenital disorder of glycosylation type II autosomal recessive disease A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG2 on chromosome 1q42.2.
DOID:0070269
congenital disorder of glycosylation type Ia
class of disease congenital disorder of glycosylation type I autosomal recessive disease human disease
DOID:0080552
congenital dyserythropoietic anemia type I
class of disease congenital dyserythropoietic anemia
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis
DOID:0111396
congenital dyserythropoietic anemia type II
class of disease congenital dyserythropoietic anemia autosomal recessive disease medical condition
DOID:0111401
congenital dyserythropoietic anemia type III
class of disease congenital dyserythropoietic anemia
medical condition
DOID:0111399
congenital dyserythropoietic anemia type IV
class of disease congenital dyserythropoietic anemia autosomal dominant disease medical condition
DOID:0111400
congenital dyserythropoietic anemia type Ia class of disease autosomal recessive disease congenital dyserythropoietic anemia type I
human disease
DOID:0111398
congenital dyserythropoietic anemia type Ib class of disease autosomal recessive disease congenital dyserythropoietic anemia type I
human disease
DOID:0111397
congenital fiber-type disproportion
class of disease congenital myopathy
Human disease
DOID:0080102
Congenital fiber type disproportion
congenital fibrosarcoma class of disease pediatric fibrosarcoma Human disease
DOID:8418
congenital generalized lipodystrophy type 1 class of disease congenital generalized lipodystrophy
A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
DOID:0111135
congenital granular cell tumor class of disease mesenchymal cell neoplasm Human disease
DOID:8303
congenital heart block
class of disease congenital heart disease genetic cardiac rhythm disease atrioventricular block heart conduction disease
atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life
DOID:990
congenital hemolytic anemia
class of disease symptom or sign
hemolytic anemia congenital anemia Human disease
DOID:589
C15.378.071.141.150 C16.320.070
congenital hypogammaglobulinemia class of disease B cell deficiency agammaglobulinemia
Human disease
DOID:14177
congenital hypoplastic anemia
class of disease aplastic anemia congenital anemia congenital bone marrow failure syndromes congenital disorder
Human disease
DOID:1342
C15.378.071.085.080 C15.378.190.223.500.500 C16.320.077
congenital hypothyroidism
class of disease hypothyroidism congenital disorder
hypothyroidism that is present at birth
DOID:0050328
C05.116.099.343.347 C05.116.132.256 C16.320.240.625 C19.297.155 C19.874.482.281
Congenital hypothyroidism
congenital intrinsic factor deficiency class of disease vitamin B12 deficiency inborn disorder of cobalamin metabolism and transport vitamin B12 deficiency anemia congenital disorder
vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption
DOID:0050734
congenital lactase deficiency class of disease lactase deficiency carbohydrate metabolic disorder disorder of carbohydrate absorption and transport congenital intestinal disease due to an enzymatic defect metabolic disease with intestinal involvement autosomal recessive disease rare severe gastrointestinal disorder in newborns primarily reported in Finland
DOID:0111646
congenital limbs-face contractures-hypotonia-developmental delay syndrome class of disease syndrome autosomal dominant disease human disease
DOID:0081048
congenital megabladder class of disease bladder disease autosomal dominant disease Megacystis
human disease
DOID:0112014
congenital mesoblastic nephroma class of disease mesoblastic nephroma kidney cancer
Human disease
DOID:4773
congenital muscular dystrophy
class of disease muscular dystrophy autosomal recessive disease disease
human disease
DOID:0050557
congenital muscular dystrophy 1B class of disease congenital muscular dystrophy genetic disease autosomal recessive disease congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has material basis in variation in the chromosome region 1q42
DOID:0110634
congenital muscular dystrophy merosin-positive class of disease congenital muscular dystrophy genetic disease autosomal recessive disease human disease
DOID:0110638
congenital muscular dystrophy with cataracts and intellectual disability class of disease congenital muscular dystrophy genetic disease autosomal recessive disease human disease
DOID:0080197
congenital muscular dystrophy-dystroglycanopathy A14 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
DOID:0111233
congenital muscular dystrophy-dystroglycanopathy A7 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
DOID:0111234
congenital muscular dystrophy-dystroglycanopathy type A class of disease muscular dystrophy-dystroglycanopathy muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing
DOID:0111229
congenital muscular dystrophy-dystroglycanopathy type A1 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
DOID:0111237
congenital muscular dystrophy-dystroglycanopathy type A10 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
DOID:0111239
congenital muscular dystrophy-dystroglycanopathy type A11 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
DOID:0111230
congenital muscular dystrophy-dystroglycanopathy type A12 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMK on 8p11.21.
DOID:0111235
congenital muscular dystrophy-dystroglycanopathy type A13 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
DOID:0111238
congenital muscular dystrophy-dystroglycanopathy type A3 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
DOID:0111236
congenital muscular dystrophy-dystroglycanopathy type A5 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
DOID:0111241
congenital muscular dystrophy-dystroglycanopathy type A6 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
DOID:0111242
congenital muscular dystrophy-dystroglycanopathy type A8 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
DOID:0111231
congenital muscular dystrophy-dystroglycanopathy type A9 class of disease congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
DOID:0111232
congenital myasthenic syndrome 10 class of disease congenital myasthenic syndrome genetic disease autosomal recessive disease human disease
DOID:0110668
congenital myasthenic syndrome 1A class of disease congenital myasthenic syndrome genetic disease autosomal dominant disease human disease
DOID:0110663
congenital nongoitrous hypothryoidism 1 class of disease hypothyroidism, congenital, nongoitrous genetic disease autosomal recessive disease congenital hypothyroidism that has material basis in mutation in the TSHR gene on chromosome 14q31
DOID:0070126
congenital nongoitrous hypothryoidism 2 class of disease hypothyroidism, congenital, nongoitrous congenital hypothyroidism due to developmental anomaly congenital thyroid malformation without hypothyroidism thyroid hormone resistance syndrome genetic disease autosomal dominant disease congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13
DOID:0070124
congenital nongoitrous hypothryoidism 3 class of disease hypothyroidism, congenital, nongoitrous genetic disease autosomal dominant disease A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.
DOID:0070127
congenital nongoitrous hypothryoidism 4 class of disease hypothyroidism, congenital, nongoitrous genetic disease autosomal recessive disease congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has material basis in homozygous mutation in the TSHB gene on chromosome 1p13
DOID:0070123
congenital nongoitrous hypothryoidism 5 class of disease hypothyroidism, congenital, nongoitrous genetic disease autosomal dominant disease congenital hypothyroidism
congenital hypothyroidism that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35
DOID:0070125
congenital nongoitrous hypothryoidism 6 class of disease hypothyroidism, congenital, nongoitrous genetic disease autosomal dominant disease A congenital hypothyroidism that has material basis in heterozygous mutation in the THRA gene on chromosome 17q21.1.
DOID:0070128
congenital nongoitrous hypothyroidism 7 class of disease autosomal recessive disease hypothyroidism, congenital, nongoitrous human disease
DOID:0111836
congenital nongoitrous hypothyroidism 8 class of disease autosomal dominant disease hypothyroidism, congenital, nongoitrous human disease
DOID:0111837
congenital nongoitrous hypothyroidism 9 class of disease X-linked recessive disease hypothyroidism, congenital, nongoitrous human disease
DOID:0111835
congenital nystagmus 1 class of disease autosomal genetic disease congenital nystagmus human disease
DOID:0111790
congenital nystagmus 2 class of disease congenital nystagmus autosomal dominant disease human disease
DOID:0111792
congenital nystagmus 3 class of disease autosomal dominant disease congenital nystagmus human disease
DOID:0111793
congenital nystagmus 4 class of disease congenital nystagmus autosomal dominant disease human disease
DOID:0111794
congenital nystagmus 5 class of disease X-linked dominant disease congenital nystagmus human disease
DOID:0111796
congenital nystagmus 6 class of disease congenital nystagmus human disease
DOID:0111795
congenital nystagmus 7 class of disease autosomal dominant disease congenital nystagmus human disease
DOID:0111791
congenital ptosis class of disease ptosis
ptosis characterized by eyelid drop present at birth
DOID:0060261
congenital stationary night blindness class of disease hereditary night blindness night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves
DOID:0050534
congenital stationary night blindness 1A class of disease congenital stationary night blindness X-linked recessive disease A congenital stationary night blindness that has material basis in mutation in the NYX gene on chromosome Xp11.4.
DOID:0110870
congenital stationary night blindness 2A class of disease congenital stationary night blindness X-linked recessive disease A congenital stationary night blindness that has material basis in mutation in the CACNA1F gene on chromosome Xp11.23.
DOID:0110871
congenital structural myopathy class of disease muscular disease
human disease
DOID:422
C05.651.575 C10.668.491.550
congenital symmetric circumferential skin creases 1 class of disease autosomal dominant disease human disease
DOID:0112242
congestive heart failure class of disease heart disease heart failure
human disease
DOID:6000
conidiobolomycosis
class of disease subcutaneous mycosis Human disease
DOID:0050279
conjugate gaze palsy
class of disease strabismus disease
Human disease
DOID:12445
conjunctival cancer class of disease ocular cancer conjunctival neoplasm conjunctival disease Human disease
DOID:5467
conjunctival concretion
class of disease conjunctival deposit Human disease
DOID:11988
conjunctival degeneration class of disease conjunctival disease conjunctival degenerations and deposits eye degenerative disease Human disease
DOID:10139
conjunctival deposit class of disease conjunctival disease conjunctival degenerations and deposits Human disease
DOID:11653
conjunctival disease class of disease eye disease
Human disease
DOID:4251
C11.187
conjunctival folliculosis class of disease acute conjunctivitis Human disease
DOID:11219
conjunctival pigmentation class of disease pigmentation disorder
Human disease
DOID:12304
conjunctival pterygium class of disease conjunctival degeneration pterygium
human disease
DOID:10526
conjunctival vascular disease class of disease conjunctival disease Human disease
DOID:10989
conjunctivochalasis
class of disease conjunctival disease Human disease
DOID:4250
Conjunctivochalasis
connective tissue benign neoplasm class of disease musculoskeletal system benign neoplasm connective tissue disease connective tissue neoplasm
musculoskeletal system benign neoplasm that is located in connective tissue
DOID:0060123
connective tissue disease
class of disease musculoskeletal disorder skin and connective tissue diseases musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage
DOID:65
C17.300
Connective tissue diseases
connective tissue neoplasm
class of disease musculoskeletal system cancer connective tissue disease connective and soft tissue neoplasms musculoskeletal system cancer that is located in connective tissue
DOID:201
C04.557.450.565 C17.300.680
constant exophthalmos class of disease orbital disease exophthalmos
Human disease
DOID:9945
constipation
class of disease symptom or sign
bowel dysfunction clinical sign feces and droppings symptom disease
bowel dysfunction that is characterized by infrequent or difficult evacuation of feces
DOID:2089
C23.888.821.150
Constipation
constrictive pericarditis
class of disease pericarditis
heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function
DOID:11481
C14.280.720.595
Constrictive pericarditis
contact blepharoconjunctivitis class of disease blepharoconjunctivitis Human disease
DOID:13999
contact dermatitis
class of disease dermatitis eczema disease
human disease
DOID:2773
C17.800.174.255 C17.800.815.255
Contact dermatitis
contact lens corneal edema class of disease corneal edema Human disease
DOID:11034
conus medullaris neoplasm class of disease Spinal cord cancer Human disease
DOID:3641
conventional angiosarcoma class of disease angiosarcoma
Human disease
DOID:4512
conventional central osteosarcoma class of disease bone osteosarcoma Human disease
DOID:3378
conventional fibrosarcoma class of disease fibrosarcoma
Human disease
DOID:3517
conventional leiomyosarcoma class of disease leiomyosarcoma
Human disease
DOID:5253
conventional malignant hemangiopericytoma class of disease hemangiopericytoma hemangiopericytoma, malignant Human disease
DOID:6197
conversion disorder
class of disease symptom or sign
somatoform disorder functional neurologic disorder disease
physical illness or symptoms caused by serious emotional stress
DOID:1768
F03.875.300
cor pulmonale
class of disease congestive heart failure disease
human disease
DOID:8515
C14.280.832
Pulmonary heart disease
core binding factor acute myeloid leukemia class of disease acute myeloid leukemia
human disease
DOID:0080796
cork-handlers' disease
class of disease extrinsic allergic alveolitis
An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.
DOID:840
cornea cancer class of disease ocular cancer cornea neoplasm corneal disease Human disease
DOID:6199
cornea plana class of disease corneal disease Human disease
DOID:0060287
cornea squamous cell carcinoma class of disease cornea cancer squamous cell carcinoma
Human disease
DOID:13538
corneal abscess class of disease deep keratitis Human disease
DOID:11543
corneal argyrosis class of disease corneal disease argyria
Human disease
DOID:13447
corneal degeneration class of disease corneal disease eye degenerative disease Human disease
DOID:1237
corneal deposit class of disease corneal disease Human disease
DOID:11547
corneal disease class of disease eye disease
human disease
DOID:10124
C11.204
Disorders of sclera and cornea
corneal dystrophy
class of disease corneal disease human disease
DOID:2566
C11.204.236 C11.270.162 C16.320.290.162
Corneal dystrophy
corneal ectasia
class of disease corneal disease Human disease
DOID:1436
corneal edema class of disease corneal disease Human disease
DOID:11030
C11.204.267
corneal endothelial dystrophy class of disease corneal dystrophy
Human disease
DOID:0060443
corneal granular dystrophy
class of disease epithelial-stromal TGFBI dystrophy autosomal dominant disease Human disease
DOID:12318
Granular corneal dystrophy
corneal neovascularization
class of disease keratitis neovascularization
Human disease
DOID:11382
C11.204.290
Corneal neovascularization
corneal opacification and other ocular anomalies class of disease sclerocornea genetic disease monogenic disease eye disease
sclerocornea that has material basis in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis
DOID:0060648
corneal staphyloma class of disease corneal disease staphyloma
Human disease
DOID:12753
corneal ulcer
class of disease symptom or sign
keratitis corneal disease eye ulceration cornea symptom disease
area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber
DOID:8463
C01.539.375.177 C11.204.564.225 C11.294.177
Corneal ulcer
coronary aneurysm
class of disease aneurysm aneurysm of heart coronary artery disease
Human disease
DOID:3362
C14.280.647.250.250 C14.907.055.395 C14.907.585.250.250
Coronary aneurysm
coronary artery anomaly
class of disease coronary artery disease vascular malformation congenital heart disease
Human disease
DOID:11843
C14.240.400.210 C14.280.400.210 C16.131.240.400.210
Coronary artery anomalies
coronary artery disease
class of disease artery disease cardiovascular disease disease
disease characterized by plaque building up in the arteries of the heart
DOID:3393
C14.280.647.250.260 C14.907.137.126.339 C14.907.585.250.260
Coronary artery disease
coronary artery vasospasm
class of disease coronary artery disease vasospasm disease
Human disease
DOID:11840
C14.280.647.250.295 C14.907.585.250.295
coronary restenosis class of disease coronary stenosis restenosis
Human disease
DOID:4247
C14.280.647.250.285.200 C14.907.585.250.285.200
coronary stenosis class of disease coronary artery disease
Human disease
DOID:4248
C14.280.647.250.285 C14.907.585.250.285
coronary thrombosis
class of disease coronary artery disease thrombosis arterial thrombosis disease
disease: formation of a blood clot inside a blood vessel of the heart, which clot may then restrict blood flow within the heart, leading to heart tissue damage, or a myocardial infarction, also known as a heart attack
DOID:11847
C14.280.647.250.290 C14.907.355.830.220 C14.907.585.250.290
Cardiac thrombosis
corpus callosum lipoma class of disease cerebral hemisphere lipoma Human disease
DOID:6294
corpus callosum oligodendroglioma class of disease brain oligodendroglioma oligodendroglioma
brain oligodendroglioma located in the corpus callosum
DOID:0050901
corpus luteum cyst
class of disease ovarian cyst
human disease
DOID:13050
cortical deafness
class of disease sensorineural hearing loss agnosia central auditory disease auditory agnosia
agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact
DOID:0060140
cortical senile cataract class of disease senile cataract human disease
DOID:13574
cortical thymoma class of disease dendritic cell thymoma Human disease
DOID:6530
corticosteroid allergy class of disease drug allergy steroids allergy drug allergy that has allergic trigger corticosteroid
DOID:0040014
corticosterone methyloxidase deficiency 1 class of disease autosomal recessive disease adrenal gland disease
human disease
DOID:0080626
cortisone reductase deficiency class of disease endocrine system disease hyperandrogenism
endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism
DOID:0090139
costochondritis
class of disease chondropathy syndrome disease
human disease
DOID:14021
cough variant asthma class of disease asthma chronic asthma asthma that is characterized by chronic nonproductive cough without shortness of breath
DOID:12323
C08.127.108.784 C08.381.495.108.750 C08.674.095.784 C20.543.480.680.095.688
cow milk allergy class of disease milk allergy
milk allergy triggered by Bos taurus milk
DOID:0060521
cranial nerve III tumor class of disease third cranial nerve disease cranial nerve neoplasm peripheral nervous system neoplasm Human disease
DOID:2817
cranial nerve disease
class of disease peripheral neuropathy
neuropathy that is located in one of the twelve cranial nerves
DOID:5656
C10.292
cranial nerve neoplasm class of disease nervous system neoplasm cranial nerve disease central nervous system cancer Human disease
DOID:338
C04.588.614.300 C04.588.614.596.240 C10.292.225 C10.551.360 C10.551.775.250
Cranial nerve neoplasms
cranial nerve palsy class of disease symptom or sign
cranial nerve disease palsy eye symptom Human disease
DOID:3817
cranial pseudosarcomatous fasciitis class of disease pseudosarcomatous fibromatosis
Human disease
DOID:7326
cranio-facial dystonia class of disease focal dystonia
focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck
DOID:0050845
craniodiaphyseal dysplasia
class of disease osteosclerosis
osteosclerosis that results in increased calcium concentration located in skull which decreases the size of cranium foramina and cervical spinal canal
DOID:0080032
cranioectodermal dysplasia 1 class of disease Sensenbrenner syndrome
human disease
DOID:0080803
cranioectodermal dysplasia 2 class of disease Sensenbrenner syndrome
human disease
DOID:0080804
cranioectodermal dysplasia 3 class of disease Sensenbrenner syndrome
human disease
DOID:0080805
cranioectodermal dysplasia 4 class of disease Sensenbrenner syndrome
human disease
DOID:0080806
craniopharyngioma
class of disease central nervous system organ benign neoplasm Rathke's pouch tumor type of brain tumor derived from pituitary gland embryonic tissue that occurs most commonly in children, but also affects adults
DOID:3840
C04.557.465.625.200 C04.557.580.625.200
Craniopharyngiomas
craniosynostosis
class of disease synostosis rare disease craniofacial disease disease
premature fusion of bones in the skull
DOID:2340
C05.116.099.370.894.232 C05.660.207.240 C05.660.906.364 C16.131.621.207.240 C16.131.621.906.364
Craniosynostosis
crater-like holes of optic disc class of disease visual pathway disease Human disease
DOID:13295
Optic pit
crescentic glomerulonephritis class of disease acute proliferative glomerulonephritis
Human disease
DOID:13139
cribriform carcinoma class of disease breast carcinoma Human disease
DOID:5675
cribriform variant testicular seminoma class of disease testis seminoma Human disease
DOID:7269
critical illness polyneuropathy
class of disease inflammatory and toxic neuropathy polyneuropathy
Human disease
DOID:14402
crustacean allergy class of disease shellfish allergy seafood allergy
shellfish allergy triggered by Crustacea
DOID:0060524
cryptococcal meningitis class of disease cryptococcosis fungal meningitis
fungal meningitis that has material basis in Crypococcus fungal infection
DOID:0080159 DOID:12052
C01.150.703.181.500.500 C01.150.703.248.290 C10.228.228.198.500.500 C10.586.625.300.500 C01.207.198.500.500
Meningeal cryptococcosis
cryptophthalmos
class of disease eyelid disease congenital disorder
congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure
DOID:0111716
cryptorchidism
class of disease congenital disorder testicular disease male reproductive system disease genetic disease sex differentiation disease disease
defective mammal development
DOID:11383
C12.200.294.829.258 C12.200.706.258 C16.131.939.258 C19.391.829.258 C12.100.500.829.258 C12.800.258
Cryptorchidism
cutaneous Paget's disease class of disease skin carcinoma extramammary Paget's disease
skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli
DOID:3450
cutaneous T cell lymphoma
class of disease peripheral T-cell lymphoma genetic disease cutaneous lymphoma disease
non-Hodgkin's lymphoma that has material basis in a mutation of T cells
DOID:0060061
C04.557.386.480.750.800 C15.604.515.569.480.750.800 C20.683.515.761.480.750.800
Cutaneous T-cell lymphoma
cutaneous candidiasis class of disease symptom or sign
dermatomycosis candidiasis skin disease
candidiasis that is characterized by Candida infection located in the skin
DOID:0080161
C01.150.703.160.132 C01.150.703.302.105 C01.800.200.105 C17.800.838.208.170
Candidiasis of the skin
cutaneous diphtheria
class of disease pyoderma diphtheria
pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of individuals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin
DOID:12275
cutaneous endometriosis
class of disease endometriosis
human disease
DOID:11430
cutaneous ganglioneuroma class of disease skin benign neoplasm ganglioneuroma
Human disease
DOID:2425
cutaneous leiomyosarcoma class of disease skin sarcoma Human disease
DOID:5273
Cutaneous leiomyosarcoma
cutaneous liposarcoma class of disease skin sarcoma Human disease
DOID:5712
cutaneous lupus erythematosus
class of disease lupus erythematosus skin disease
lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight
DOID:0050169
C17.300.475 C17.800.480
cutaneous mastocytosis class of disease mastocytosis skin disease
human disease
DOID:3663
C04.557.450.565.465.500 C17.800.508.473
cutaneous meningioma
class of disease skin benign neoplasm ectopic meningioma skin cancer
Human disease
DOID:8006
cutaneous mucoepidermoid carcinoma class of disease skin benign neoplasm mucoepidermoid carcinoma skin carcinoma Human disease
DOID:4683
cutaneous small-vessel vasculitis
class of disease hypersensitivity vasculitis skin disease microvasculitis allergy disease
hypersensitivity vasculitis that results in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin
DOID:11450
Cutaneous small-vessel vasculitis
cutaneous squamous-cell carcinoma
class of disease skin carcinoma squamous cell carcinoma disease
skin carcinoma that has material basis in squamous cells
DOID:3151
Squamous-cell carcinoma of the skin
cyclophosphamide allergy class of disease drug allergy
drug allergy that has allergic trigger cyclophosphamide
DOID:0040027
cycloplegia
class of disease eye accommodation disease disease
paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation
DOID:10033
cyclothymia
class of disease bipolar disorder disease
persistent instability of mood that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes
DOID:845
F03.600.500
cyclotropia
class of disease strabismus
Human disease
DOID:9838
cylindrical spirals myopathy class of disease congenital myopathy
Human disease
DOID:0080103
cystadenocarcinoma
class of disease cystic neoplasm malignant cystadenoma disease
adenocarcinoma that derives from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed
DOID:3111
C04.557.470.200.025.480 C04.557.470.590.480
cystadenofibroma class of disease adenofibroma ovarian benign neoplasm adenofibroma composed of epithelial ovarian tissue
DOID:5482
C04.557.450.565.590.595.050.500 C04.557.470.590.482 C04.557.470.625.050.500
cystadenoma
class of disease adenoma
adenoma that is a cystic
DOID:2634
C04.557.470.035.320 C04.557.470.590.485
Cystadenomas
cystathioninuria
class of disease sulfuraminoacidemia amino acid metabolic disorder genetic disease
amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
DOID:0090142
cystic basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4302
cystic echinococcosis class of disease echinococcosis lung disease bone disease heart disease liver disease encephalopathy
Human disease
DOID:1495
cystic kidney disease
class of disease renal cyst kidney disease
congenital or acquired kidney disorder characterized by the presence of renal cysts
DOID:2975
C12.777.419.403 C13.351.968.419.403
Cystic kidney diseases
cystic lymphangioma
class of disease lymphangioma Cystic lymphatic malformation hygroma human disease
DOID:3081
C04.557.375.450.450
Cystic hygroma
cystic nephroma
class of disease kidney benign neoplasm nephroma disease
Human disease
DOID:2673
Cystic nephroma
cystic teratoma class of disease teratoma benign teratoma Human disease
DOID:2660
cystinuria
class of disease amino acid metabolic disorder ureteral disease bladder disease kidney disease disease
amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder
DOID:9266
C12.777.419.815.885.250 C13.351.968.419.815.885.250 C16.320.565.861.885.250 C18.452.648.861.885.250
Cystine crystals in urine
cystitis
class of disease symptom or sign
bladder disease inflammation inflammatory disease disease
human disease
DOID:1679
C12.200.777.829.495 C12.050.351.968.829.495 C12.950.829.495
Cystitis
cystitis cystica
class of disease cystitis
human disease
DOID:7138
Cystitis cystica
cystoid macular edema class of disease macular retinal edema
Human disease
DOID:4447
cystoid macular retinal degeneration class of disease degeneration of macula and posterior pole Human disease
DOID:14245
cytochrome P450 oxidoreductase deficiency class of disease steroid inherited metabolic disorder autosomal recessive disease human disease
DOID:0080925
cytomegalovirus retinitis
class of disease cytomegaloviral disease retinitis viral eye infection disease
retinitis that has material basis in Cytomegalovirus
DOID:0080160
C01.375.725.270 C01.925.256.466.245.150 C11.294.800.270 C11.768.773.360 C01.925.325.270
Cytomegalovirus retinitis
dacryoadenitis
class of disease lacrimal apparatus disease disease
human disease
DOID:950
dacryocystitis
class of disease acute inflammation of lacrimal passage disease
infection of the lacrimal sac
DOID:9938
C11.496.221
Dacryocystitis
dacryocystocele
class of disease chronic inflammation of lacrimal passage Human disease
DOID:9939
deafness, aminoglycoside-induced class of disease drug-induced hearing loss human disease
DOID:0111734
dedifferentiated liposarcoma class of disease liposarcoma
liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells
DOID:0080531
deep angioma class of disease hemangioma
Human disease
DOID:469
deep corneal vascularisation class of disease corneal neovascularization
Human disease
DOID:12087
deep keratitis class of disease keratitis
human disease
DOID:9858
deep leiomyoma class of disease leiomyoma
Human disease
DOID:5128
deficiency anemia
class of disease anemia nutritional deficiency disease Human disease
DOID:13121
Nutritional anemias
degeneration of macula and posterior pole class of disease macular degeneration
human disease
DOID:2007
degenerative disc disease
class of disease Intervertebral disc disorder bone deterioration disease bone deterioration disease that has material basis in gradual dehydration and tears located in intervertebral disc
DOID:90
C05.116.900.153
Degenerative disc disease
degenerative myopia class of disease eye degenerative disease myopia
Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness
DOID:11829
C11.744.636.500
dehydrated hereditary stomatocytosis class of disease hereditary stomatocytosis hemolytic anemia
DOID:0111575
dehydrated hereditary stomatocytosis 1 class of disease dehydrated hereditary stomatocytosis autosomal dominant disease human disease
DOID:0111576
dehydration polycythemia class of disease acquired polycythemia hemoconcentration Human disease
DOID:2833
delayed sleep phase disorder
class of disease sleep disorder circadian rhythm sleep disorder disease
chronic mismatch between a person's normal daily rhythm, compared to other people and societal norms
DOID:0111141
delta chain disease class of disease heavy chain disease
heavy chain disease that results from an overproduction of delta antibody (IgD)
DOID:0060129
delta thalassemia
class of disease thalassemia beta thalassemia autosomal dominant disease type of thalassemia
DOID:0080773
C15.378.071.141.150.875.575 C15.378.420.826.200 C16.320.070.875.575 C16.320.365.826.575
delusional disorder
class of disease symptom or sign
psychosis disease
mental disease
DOID:778
dementia
class of disease symptom or sign
cognitive disorder organic brain syndrome clinical sign disability affecting intellectual abilities disease
long-term brain disorder causing personality changes and impaired memory, reasoning, and social function
DOID:1307
C10.228.140.380 F03.615.400
Dementia
demyelinating disease
class of disease neurological disorder neurodegeneration central nervous system disease disease
type of neurological disease where the myelin sheath of neurons is damaged
DOID:3213
C10.314
Demyelinating diseases
demyelinating polyneuropathy class of disease polyneuropathy spinal cord disease demyelinating disease
Polyneuropathy that is characterized by demyelination of axons
DOID:5214
dendritic cell deficiency class of disease primary immunodeficiency disease
human disease
DOID:0111963
dendritic cell sarcoma class of disease histiocytic and dendritic cell cancer sarcoma dendritic cell tumor histiocytic and dendritic cell cancer that is mainly located in lymph nodes
DOID:7849
dendritic cell thymoma class of disease thymoma leukocyte disease hematologic cancer Human disease
DOID:3282
dengue shock syndrome class of disease dengue fever dengue hemorrhagic fever Human disease
DOID:0050125
dental abscess
class of disease symptom or sign
tooth pathology abscess
tooth disease characterized by a localized collection of pus associated with a tooth
DOID:0060324
Tooth abscess
dental caries
class of disease teeth hard tissue disease caries
deformation of teeth made by acids from bacteria
DOID:216
C07.793.720.210
Dental caries
dental enamel hypoplasia
class of disease teeth hard tissue disease Human disease
DOID:693
C07.650.800.255 C07.793.700.255 C16.131.850.800.255
Enamel hypoplasia
dental fluorosis
class of disease tooth pathology fluoride toxicity disease
human disease
DOID:13711
C07.793.330
Dental fluorosis
dental pulp calcification
class of disease dental pulp disease Human disease
DOID:5608
C07.793.237.252
dental pulp disease class of disease tooth pathology connective tissue disease
disease involving the dental pulp
DOID:5330
C07.793.237
dental pulp necrosis
class of disease dental pulp disease Human disease
DOID:11623
C07.793.237.315 C23.550.717.182
dentin caries class of disease dental caries
Human disease
DOID:10461
dentine erosion class of disease dental erosion
Human disease
DOID:13629
dentine hypersensitivity
class of disease orofacial pain teeth hard tissue disease Human disease
DOID:698
C07.793.266
denture stomatitis
class of disease stomatitis
lip disease
DOID:11875
C07.465.864.875
dependent personality disorder
class of disease personality disorder dependency disease
personality disorder that is characterized by a pervasive psychological dependence on other people
DOID:10931
F03.675.200
Dependent personality disorder
depersonalization disorder
class of disease dissociative disorder depersonalization
dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization
DOID:11038
dermal unilateral segmental cavernous angioma class of disease cavernous hemangioma
Human disease
DOID:3148
dermatitis
class of disease symptom or sign
skin disease skin and integumentary tissue symptom disease
inflammation of the skin
DOID:2723
C17.800.174
Dermatitis
dermatitis herpetiformis
class of disease symptom or sign
autoimmune skin disease bullous skin disease pemphigoid disease
human disease
DOID:8505
C17.800.174.360 C17.800.865.360 C20.111.318
Dermatitis herpetiformis
dermatographia
class of disease physical urticaria disease
human skin condition, responsible for "skin writing" effect in those affected
DOID:743
Dermatographic urticaria
dermatomycosis
class of disease skin disease fungal infectious disease skin infection
cutaneous mycosis that results in fungal infection located in skin or of its appendages, has material basis in Ascomycota fungi other than the dermatophytes
DOID:1563 DOID:0050134
C01.150.703.302 C01.800.200 C17.800.838.208
dermatosis papulosa nigra
class of disease dermatitis seborrheic keratosis
Human disease
DOID:4400
Dermatosis papulosa nigra
dermis tumor class of disease skin benign neoplasm Human disease
DOID:2438
dermoid cyst
class of disease cystic teratoma disease
tissue disease
DOID:2658
C04.182.201 C04.557.465.910.250
Dermoid cysts
dermoid cyst of ovary class of disease ovarian cyst ovarian cancer dermoid cyst ovarian benign neoplasm Human disease
DOID:5117
Ovarian dermoid cysts
dermoid cyst of skin class of disease skin cancer skin benign neoplasm dermoid cyst
Human disease
DOID:13691
descending colon cancer class of disease plump cancer Human disease
DOID:12190
desmoid disease, hereditary class of disease aggressive fibromatosis syndrome autosomal genetic disease desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential
DOID:0111349
desmoplastic small-round-cell tumor
class of disease soft-tissue sarcoma sarcoma
aggressive, rare cancer
DOID:6785
C04.557.450.795.315
Desmoplastic small round cell tumour
detrusor sphincter dyssynergia
class of disease neurogenic bladder bladder disease
Human disease
DOID:12145
deuteranopia
class of disease congenital color blindness color blindness red–green color blindness dichromatopsia
human disease, green color blindness
DOID:13909
Deuteranopia
developmental and epileptic encephalopathy class of disease electroclinical syndrome human disease
DOID:0112202
developmental and epileptic encephalopathy 100 class of disease developmental and epileptic encephalopathy human disease
DOID:0070386
developmental and epileptic encephalopathy 101 class of disease developmental and epileptic encephalopathy human disease
DOID:0070387
developmental and epileptic encephalopathy 102 class of disease developmental and epileptic encephalopathy human disease
DOID:0070388
developmental and epileptic encephalopathy 103 class of disease developmental and epileptic encephalopathy human disease
DOID:0070389
developmental and epileptic encephalopathy 104 class of disease developmental and epileptic encephalopathy human disease
DOID:0070390
developmental and epileptic encephalopathy 108 class of disease developmental and epileptic encephalopathy human disease
DOID:0070394
developmental and epileptic encephalopathy 109 class of disease developmental and epileptic encephalopathy human disease
DOID:0070378
developmental and epileptic encephalopathy 110 class of disease developmental and epileptic encephalopathy human disease
DOID:0070395
developmental and epileptic encephalopathy 67 class of disease developmental and epileptic encephalopathy autosomal dominant disease human disease
DOID:0112203
developmental and epileptic encephalopathy 68 class of disease autosomal recessive disease developmental and epileptic encephalopathy human disease
DOID:0112204
developmental and epileptic encephalopathy 69 class of disease developmental and epileptic encephalopathy human disease
DOID:0112205
developmental and epileptic encephalopathy 70 class of disease autosomal dominant disease developmental and epileptic encephalopathy human disease
DOID:0112206
developmental and epileptic encephalopathy 71 class of disease developmental and epileptic encephalopathy human disease
DOID:0112207
developmental and epileptic encephalopathy 72 class of disease developmental and epileptic encephalopathy human disease
DOID:0112208
developmental and epileptic encephalopathy 73 class of disease developmental and epileptic encephalopathy human disease
DOID:0112209
developmental and epileptic encephalopathy 74 class of disease developmental and epileptic encephalopathy autosomal dominant disease human disease
DOID:0112210
developmental and epileptic encephalopathy 75 class of disease developmental and epileptic encephalopathy autosomal recessive disease human disease
DOID:0112211
developmental and epileptic encephalopathy 78 class of disease developmental and epileptic encephalopathy human disease
DOID:0112214
developmental and epileptic encephalopathy 79 class of disease developmental and epileptic encephalopathy human disease
DOID:0112215
developmental and epileptic encephalopathy 80 class of disease developmental and epileptic encephalopathy human disease
DOID:0112216
developmental and epileptic encephalopathy 81 class of disease developmental and epileptic encephalopathy human disease
DOID:0112217
developmental and epileptic encephalopathy 83 class of disease autosomal recessive disease developmental and epileptic encephalopathy human disease
DOID:0112218
developmental and epileptic encephalopathy 84 class of disease developmental and epileptic encephalopathy human disease
DOID:0112219
developmental and epileptic encephalopathy 89 class of disease developmental and epileptic encephalopathy human disease
DOID:0112223
developmental coordination disorder
class of disease motor disorder specific developmental disorder disease
neurodevelopmental condition
DOID:9923
F03.625.813
Dyspraxia
developmental delay and seizures with or without movement abnormalities class of disease syndromic intellectual disability human disease
DOID:0080473
developmental disorder
class of disease mental disorder developmental disability neurodevelopmental disorder disease
disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development
DOID:0060037
dextro-looped transposition of the great arteries 1 class of disease dextro-transposition of the great arteries genetic disease autosomal dominant disease dextro-looped transposition of the great arteries that has material basis in heterozygous missense mutation in the MED13L gene on chromosome 12q24
DOID:0060771
dextrocardia
class of disease heart position anomaly congenital heart disease disease
rare congenital defect in which the apex of the heart is located on the right side of the body
DOID:9565
C14.240.400.280 C14.280.400.280 C16.131.240.400.280 C16.131.810.250
Dextrocardia
diabetes
class of disease glucose metabolism disease disease
group of metabolic disorders characterized by high blood sugar levels over a prolonged period
DOID:9351
C18.452.394.750 C19.246
Diabetes mellitus
diabetes class of disease glucose metabolism disease human disease
DOID:0081062
diabetic angiopathy
class of disease peripheral vascular disease complications of diabetes mellitus
human disease
DOID:11713
C14.907.320 C19.246.099.500
Diabetic angiopathy
diabetic autonomic neuropathy class of disease autonomic neuropathy diabetic neuropathy
Autonomic neuropathy that is caused by diabetes mellitus
DOID:11503
diabetic cataract class of disease cataract ocular manifestation of diabetes Human disease
DOID:13328
diabetic encephalopathy class of disease encephalopathy complications of diabetes mellitus
brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes
DOID:0050850
diabetic ketoacidosis
class of disease complications of diabetes mellitus type 2 diabetes ketoacidosis metabolic acidosis disease
potentially life-threatening complication in people with diabetes mellitus
DOID:1837 DOID:10626
C18.452.076.176.652.500 C18.452.394.750.535 C19.246.099.812
Diabetic ketoacidosis
diabetic macular edema class of disease macular retinal edema diabetic retinopathy
Human disease
DOID:9191
Diabetic macular edema
diabetic neuropathy
class of disease complications of diabetes mellitus peripheral neuropathy disease
neurological complication of persistently high blood sugar
DOID:9743
C10.668.829.300 C19.246.099.937
Diabetic neuropathy
diabetic polyneuropathy class of disease diabetic neuropathy
Human disease
DOID:12785
diabetic retinopathy
class of disease ocular manifestation of diabetes diabetic angiopathy retinal vascular disease disease
human disease
DOID:8947
C11.768.257 C14.907.320.382 C19.246.099.500.382
Diabetic retinopathy
diaphragm disease class of disease muscular disease respiratory disease
human disease
DOID:10481
Disorders of diaphragm
diaphragmatic eventration class of disease diaphragm disease congenital or acquired abnormality characterized by elevation of the hemidiaphragm
DOID:10480
C06.198.257 C16.131.314.244
diarrhea
class of disease symptom or sign
gastrointestinal system disease clinical sign feces and droppings symptom disease
loose or liquid bowel movements
DOID:13250
C23.888.821.214
Diarrhea
diclofenac allergy class of disease drug allergy
drug allergy that has allergic trigger diclofenac
DOID:0040031
diencephalic astrocytoma class of disease diencephalic neoplasm brain glioma brain astrocytoma glioma
Human disease
DOID:4855
diencephalic neoplasm class of disease supratentorial cancer human disease
DOID:3843
differentiated thyroid carcinoma class of disease thyroid carcinoma thyroid gland adenocarcinoma Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass
DOID:0080525
differentiating neuroblastoma class of disease neuroblastoma
Human disease
DOID:4160
diffuse alopecia areata class of disease alopecia areata
alopecia areata that involves diffuse loss of hair over the whole scalp
DOID:0060157
diffuse cutaneous mastocytosis
class of disease cutaneous mastocytosis Human disease
DOID:3665
diffuse cystic renal dysplasia class of disease cystic kidney disease autosomal dominant disease human disease
DOID:0111682
diffuse gastric cancer class of disease stomach cancer
human disease
DOID:0080763
diffuse glomerulonephritis class of disease glomerulonephritis
Human disease
DOID:4781
diffuse infiltrative lymphocytosis syndrome
class of disease syndrome lymphocytosis AIDS related disease Human disease
DOID:6677
diffuse interstitial keratitis class of disease interstitial keratitis
Human disease
DOID:13353
diffuse large B-cell lymphoma
class of disease B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma type of lymphoma (cancer)
DOID:0050745
C04.557.386.480.150.585 C15.604.515.569.480.150.585 C20.683.515.761.480.150.585
Diffuse large B-cell lymphoma
diffuse lipomatosis class of disease lipomatosis
Human disease
DOID:3923
diffuse meningeal melanocytosis class of disease central nervous system melanocytic neoplasm Human disease
DOID:6379
diffuse midline glioma, H3 K27M-mutant class of disease glioma juvenile astrocytoma human disease
DOID:0080684
diffuse peritoneal leiomyomatosis class of disease leiomyomatosis primary peritoneal tumor leiomyoma peritoneal benign neoplasm Human disease
DOID:5728
diffuse pulmonary fibrosis class of disease pulmonary fibrosis
human disease
DOID:5641
diffuse scleroderma class of disease systemic scleroderma
variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement
DOID:1580
C17.300.799.602 C17.800.784.602
diffuse secondary choroid atrophy class of disease choroidal sclerosis human disease
DOID:981
diffuse uterine leiomyomatosis class of disease uterine fibroid uterine corpus leiomyomatosis Human disease
DOID:5917
digenic disease class of disease polygenic disease polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes
DOID:0080578
dihydropyrimidinase deficiency class of disease pyrimidine metabolic disorder autosomal recessive disease human disease
DOID:0111629
dilated cardiomyopathy 1A class of disease dilated cardiomyopathy genetic disease
dilated cardiomyopathy that has material basis in mutation in the LMNA gene on chromosome 1q21
DOID:0110425
dilated cardiomyopathy 1B class of disease dilated cardiomyopathy genetic disease
dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13
DOID:0110443
dilated cardiomyopathy 1H class of disease dilated cardiomyopathy genetic disease monogenic disease dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22
DOID:0110429
dilated cardiomyopathy 1K class of disease dilated cardiomyopathy genetic disease monogenic disease dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16
DOID:0110437
dilated cardiomyopathy 1KK class of disease dilated cardiomyopathy genetic disease autosomal dominant disease dilated cardiomyopathy that has material basis in mutation in the MYPN gene on chromosome 10q21
DOID:0110445
dilated cardiomyopathy 1Q class of disease dilated cardiomyopathy genetic disease monogenic disease A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.
DOID:0110442
dioctophymiasis class of disease parasitic helminthiasis infectious disease kidney disease skin disease
A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys.
DOID:0050260
diphenylmethane-4,4'-diisocyanate allergic asthma class of disease isocyanates allergic asthma allergic asthma to isocyanates that has allergic trigger diphenylmethane-4,4-diisocyanate
DOID:0040042
diphenylmethane-4,4'-diisocyanate allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger diphenylmethane-4,4-diisocyanate
DOID:0040052
diphtheritic cystitis class of disease cystitis diphtheria
cystitis which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder
DOID:13306
diphtheritic peritonitis class of disease peritonitis diphtheria
peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae
DOID:13310
diplegia of upper limb class of disease neurological disorder Diplegia
Human disease
DOID:862
discharging ear class of disease symptom or sign
ear disease discharge human disease
DOID:10261
discoid lupus erythematosus of eyelid class of disease discoid lupus erythematosus noninfectious dermatoses of eyelid Human disease
DOID:9076
discrete subaortic stenosis class of disease subvalvular aortic stenosis
Human disease
DOID:5804
C14.280.484.150.070.210 C14.280.955.249.070.210
disease
class of disease health problem biological process
abnormal condition negatively affecting organisms
DOID:4
C23.550.288
Diseases and disorders
disease of anatomical entity class of disease disease
disease that manifests in a defined anatomical structure
DOID:7
disease of cellular proliferation class of disease disease
disease characterized by abnormally rapid cell division
DOID:14566
C04.697 C23.550.727
dislocation of ear ossicle class of disease middle ear disease conductive hearing loss ear disease
Human disease
DOID:11129
disodium cromoglycate allergy class of disease drug allergy metal allergy
drug allergy that has allergic trigger disodium cromoglycate
DOID:0040073
displacement of cardia through esophageal hiatus class of disease hiatus hernia
Human disease
DOID:12641
disseminated chorioretinitis class of disease chorioretinitis
Human disease
DOID:8787
disseminated eosinophilic collagen disease class of disease collagen disease eosinophilia
Human disease
DOID:9499
disseminated intravascular coagulation
class of disease thrombophilia disease
pathological process characterized by the widespread activation of the clotting cascade that results in the formation of blood clots in the small blood vessels throughout the body
DOID:11247
C15.378.100.220 C15.378.463.250 C15.378.925.220
Disseminated intravascular coagulation
disseminated superficial actinic porokeratosis
class of disease keratosis porokeratosis
Human disease
DOID:3805
dissociated nystagmus class of disease pathologic nystagmus Human disease
DOID:13174
dissociative amnesia
class of disease dissociative disorder amnesia disease
Human disease
DOID:11037
Dissociative amnesia
dissociative disorder
class of disease mental disorder dissociation disease
disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)
DOID:10935
F03.300
distal arthrogryposis type 1 class of disease distal arthrogryposis human disease
DOID:0111596
distal arthrogryposis type 10 class of disease autosomal dominant disease distal arthrogryposis human disease
DOID:0111593
distal arthrogryposis type 1A class of disease autosomal dominant disease distal arthrogryposis type 1 human disease
DOID:0111597
distal arthrogryposis type 1B class of disease distal arthrogryposis type 1 autosomal dominant disease human disease
DOID:0111598
distal arthrogryposis type 2A class of disease Freeman–Sheldon syndrome autosomal dominant disease human disease
DOID:0111605
distal arthrogryposis type 2B1 class of disease autosomal dominant disease Sheldon-Hall syndrome human disease
DOID:0111600
distal arthrogryposis type 2B2 class of disease Sheldon-Hall syndrome autosomal dominant disease human disease
DOID:0111601
distal arthrogryposis type 2B3 class of disease Sheldon-Hall syndrome autosomal dominant disease human disease
DOID:0111602
distal arthrogryposis type 3 class of disease autosomal dominant disease distal arthrogryposis human disease
DOID:0111607
distal arthrogryposis type 4 class of disease distal arthrogryposis human disease
DOID:0111610
distal arthrogryposis type 5 class of disease autosomal dominant disease distal arthrogryposis human disease
DOID:0111608
distal arthrogryposis type 5D class of disease distal arthrogryposis autosomal recessive disease human disease
DOID:0111594
distal arthrogryposis type 6 class of disease distal arthrogryposis human disease
DOID:0111609
distal biliary tract carcinoma class of disease bile duct carcinoma extrahepatic bile duct carcinoma Human disease
DOID:5923
distal hereditary motor neuronopathy type 2 class of disease
autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness
DOID:0111206
distal hereditary motor neuronopathy type 2A class of disease distal hereditary motor neuronopathy type 2 A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in HSPB8 on 12q24.23.
DOID:0111208
distal hereditary motor neuronopathy type 5 class of disease autosomal dominant distal hereditary motor neuropathy autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences
DOID:0111203
distal hereditary motor neuronopathy type 5A class of disease distal hereditary motor neuronopathy type 5 A distal hereditary motor neuronopathy type 5 that has material basis in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3.
DOID:0111204
distal hereditary motor neuronopathy type 7 class of disease autosomal dominant distal hereditary motor neuropathy autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis
DOID:0111199
distal hereditary motor neuronopathy type 7A class of disease distal hereditary motor neuronopathy type 7 human disease
DOID:0111201
distal hereditary motor neuronopathy type 7B class of disease distal hereditary motor neuronopathy type 7 A distal hereditary motor neuropathy type 7 that has material basis in heterozygous mutation in DCTN1 on 2p13.1.
DOID:0111202
distal hereditary motor neuronopathy type 8 class of disease autosomal dominant distal hereditary motor neuropathy human disease
DOID:0111215
distal hereditary motor neuronopathy type 9 class of disease autosomal dominant distal hereditary motor neuropathy human disease
DOID:0111212
distal hereditary motor neuropathy type 1 class of disease nervous system heredodegenerative disease autosomal dominant distal hereditary motor neuropathy autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration
DOID:0111200
distal hereditary motor neuropathy type 2B class of disease distal hereditary motor neuronopathy type 2 A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in HSPB1 on 7q11.23.
DOID:0111207
distal muscular dystrophy 3 class of disease
distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22
DOID:0111189
distal myopathy 1 class of disease distal muscular dystrophy genetic disease autosomal dominant disease distal muscular dystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the MYH7 gene on chromosome 14q11
DOID:0070197
distal spinal muscular atrophy type 3 class of disease nervous system heredodegenerative disease autosomal recessive distal hereditary motor neuropathy autosomal recessive distal hereditary motor neuronopathy human disease
DOID:0111211
distal spinal muscular atrophy type 4 class of disease autosomal recessive distal hereditary motor neuronopathy human disease
DOID:0111213
distal spinal muscular atrophy type 5 class of disease autosomal recessive distal hereditary motor neuronopathy human disease
DOID:0111214
disuse amblyopia class of disease amblyopia
Human disease
DOID:10378
diversion colitis
class of disease colitis
colitis caused by diversion of the fecal stream due to complication of ileostomy or colostomy
DOID:0060187
diverticulitis
class of disease symptom or sign
intestinal disease diverticular disease inflammatory disease sigmoiditis disease
digestive disease caused by an inflammation of a herniating pouch (diverticulum) within the wall of the intestine, most often colon
DOID:7475
C01.539.463.199.375 C06.405.205.282.500
Diverticulitis
diverticulitis of colon class of disease colonic disease diverticulitis colonic diverticulosis colonic disease characterized by the formation and inflammation of diverticula within the colon wall
DOID:13254
C06.405.469.158.587.500 C01.539.463.199.375.250 C06.405.205.282.500.250
dominant beta-thalassemia class of disease beta thalassemia autosomal dominant disease Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia
DOID:0080770
dominant dystrophic epidermolysis bullosa
class of disease epidermolysis bullosa dystrophica autosomal dominant disease human disease
DOID:0080224
dominant pericentral pigmentary retinopathy class of disease retinitis pigmentosa autosomal dominant disease retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life
DOID:0110420
dopamine beta-hydroxylase deficiency
class of disease autonomic nervous system disease Congenital disorders of amino acid metabolism inherited metabolic disorder primary orthostatic hypotension disorder of catecholamine synthesis neurometabolic disease ptosis neurological disorder genetic disease
genetic metabolic disorder
DOID:0090145
double pterygium class of disease pterygium
Human disease
DOID:10525
drug allergy
class of disease allergy drug intolerance
human disease
DOID:0060500
C20.543.206 C25.100.468
drug psychosis class of disease drug-induced mental disorder substance-induced psychosis psychosis
Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance
DOID:1742
C25.723.809 C25.775.746 F03.700.675.600 F03.900.746
drug-induced hearing loss class of disease deafness
nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity
DOID:0070310
drug-induced hepatitis class of disease hepatitis hepatotoxicity disease
Human disease
DOID:2044
C06.552.195.200 C25.100.562.200 C25.723.260.200
drug-induced lupus erythematosus
class of disease symptom or sign
adverse drug reaction lupus erythematosus disease
lupus erythematosus caused by chronic use of certain drugs
DOID:0040093
drug-induced mental disorder class of disease substance-related disorder adverse drug reaction substance-induced psychosis
Human disease
DOID:1203
dry beriberi class of disease beriberi
beriberi that is located in the nervous system and has symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting
DOID:0070318
dry eye syndrome class of disease lacrimal apparatus disease corneal and conjunctival dryness due to deficient tear production
DOID:10140
C11.496.260
dumping syndrome
class of disease postgastrectomy syndrome disease
Human disease
DOID:14495
C06.405.748.630.310 C23.550.767.812.500
duodenal atresia
class of disease atresia duodenal stenosis atresia of small intestine gastroduodenal malformation intestinal atresia disease
congenital disorder of digestive system
DOID:0080216
Duodenal atresia
duodenal disease class of disease intestinal disease small-intestine disease Human disease
DOID:4072
C06.405.469.275
duodenal gastrinoma class of disease duodenum cancer gastrinoma duodenal neuroendocrine tumor, well differentiated, low or intermediate grade Human disease
DOID:7959
duodenal neoplasm class of disease small intestine neoplasm duodenal disease Human disease
DOID:1737
C04.588.274.476.411.445 C06.301.371.411.445 C06.405.249.411.445 C06.405.469.275.270 C06.405.469.491.445
Duodenal neoplasms
duodenal obstruction class of disease duodenal disease bowel obstruction
Human disease
DOID:3558
C06.405.469.275.395 C06.405.469.531.311
duodenal somatostatinoma class of disease duodenum cancer duodenal neuroendocrine tumor, well differentiated, low or intermediate grade Human disease
DOID:7479
duodenal ulcer class of disease peptic ulcer disease
Human disease
DOID:1724
C06.405.469.275.800.348 C06.405.748.586.349
Duodenal ulcers
duodenitis
class of disease intestinal disease disease
Human disease
DOID:8643
C06.405.205.462.249 C06.405.469.275.600 C06.405.469.326.750
Duodenitis
duodenum adenocarcinoma class of disease duodenum cancer small intestine adenocarcinoma adenocarcinoma
duodenum cancer that derives from epithelial cells of glandular origin
DOID:10816
Duodenal adenocarcinoma
duodenum adenoma class of disease duodenal neoplasm adenoma of small intestine duodenal disease benign neoplasms by histologic type adenoma
duodenal benign neoplasm that has material basis in epithelial tissue with glandular origin
DOID:0050927
duodenum cancer
class of disease small intestine cancer small intestine carcinoma duodenal disease duodenal neoplasm small intestine cancer that is located in the beginning section of the small intestine
DOID:10021
Duodenal cancer
dysembryoplastic neuroepithelial tumour
class of disease neuronal and mixed glio-neuronal tumor low grade glioma central nervous system organ benign neoplasm epilepsy
type of brain tumour
DOID:2679
Dysembryoplastic neuroepithelial tumour
dysgammaglobulinemia
class of disease selective immunoglobulin deficiency disease selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins
DOID:11702
C15.378.147.333 C20.673.430
dysgerminoma
class of disease germ cell cancer ovarian cancer disease
germ cell cancer that derives from cells that give rise to egg cells
DOID:4441
C04.557.465.330.300
Dysgerminoma
dysgerminoma of ovary class of disease dysgerminoma ovarian primitive germ cell tumor dysgerminoma that is located in the ovary
DOID:5511
Ovarian dysgerminoma
dysgraphia
class of disease writing disorder learning disability disease
developmental or acquired neurological condition
DOID:4540
Dysgraphia
dyshormonogenic goiter class of disease goiter
Human disease
DOID:12175
dyskinesia of esophagus
class of disease esophageal motility disorder esophageal disease
human disease
DOID:9192
dyskinetic cerebral palsy
class of disease cerebral palsy
human disease
DOID:0050672
dysplastic nevus syndrome
class of disease autosomal dominant disease syndrome disease
Human skin disease
DOID:10041
C04.557.665.560.260 C04.700.305 C16.320.700.305
Dysplastic nevus syndrome
dysthymic disorder
class of disease mood disorder disease
psychological disorder
DOID:12139
F03.600.300.400
dystonia
class of disease movement disorders rare genetic dystonia disease
human disease
DOID:543
C10.597.350.300 C23.888.592.350.300
Dystonia
dystonia 21 class of disease dystonia generalized isolated dystonia genetic disease autosomal dominant disease A dystonia characterized by autosomal dominant inheritance of late onset pure torsion dystonia that has material basis in variation in the chromosome region 2q14.3-q21.3.
DOID:0090046
dystonia 5 class of disease dystonia genetic disease autosomal dominant disease autosomal recessive disease human disease
DOID:0090043
dystransthyretinemic hyperthyroxinemia class of disease hyperthyroxinemia autosomal dominant disease human disease
DOID:0080219
dystrophies primarily involving the retinal pigment epithelium class of disease fundus dystrophy retinitis pigmentosa
Human disease
DOID:14252
ear disease
class of disease sensory system disease human disease
DOID:2742
C09.218
Diseases and disorders of the ear and mastoid process
early congenital syphilis class of disease congenital syphilis
Human disease
DOID:0050488
early infantile epileptic encephalopathy 1 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy characterized by X-linked recessive inheritance that has material basis in mutation in the ARX gene on chromosome Xp21
DOID:0080468
early infantile epileptic encephalopathy 12 class of disease Ohtahara syndrome
An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3.
DOID:0080459
early infantile epileptic encephalopathy 13 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN8A gene on chromosome 12q13
DOID:0080445
early infantile epileptic encephalopathy 14 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has material basis in heterozygous mutation in the KCNT1 gene on chromosome 9q34
DOID:0080439
early infantile epileptic encephalopathy 16 class of disease Ohtahara syndrome
human disease
DOID:0080449
early infantile epileptic encephalopathy 19 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRA1 gene on chromosome 5q34
DOID:0080431
early infantile epileptic encephalopathy 2 class of disease Ohtahara syndrome
human disease
DOID:0080467
early infantile epileptic encephalopathy 21 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13
DOID:0080443
early infantile epileptic encephalopathy 23 class of disease Ohtahara syndrome autosomal recessive disease early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31
DOID:0080415
early infantile epileptic encephalopathy 24 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the HCN1 gene on chromosome 5p12
DOID:0080429
early infantile epileptic encephalopathy 25
class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13
DOID:0080453
early infantile epileptic encephalopathy 26 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the KCNB1 gene on chromosome 20q13
DOID:0080461
early infantile epileptic encephalopathy 27 class of disease Ohtahara syndrome
human disease
DOID:0080444
early infantile epileptic encephalopathy 29 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the AARS gene on chromosome 16q22
DOID:0080451
early infantile epileptic encephalopathy 30 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SIK1 gene on chromosome 21q22
DOID:0080465
early infantile epileptic encephalopathy 31 class of disease Ohtahara syndrome developmental and epileptic encephalopathy early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the DNM1 gene on chromosome 9q34
DOID:0080437
early infantile epileptic encephalopathy 32 class of disease Ohtahara syndrome
human disease
DOID:0080416
early infantile epileptic encephalopathy 33 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the EEF1A2 gene on chromosome 20q13
DOID:0080463
early infantile epileptic encephalopathy 34 class of disease Ohtahara syndrome
human disease
DOID:0080460
early infantile epileptic encephalopathy 35 class of disease Ohtahara syndrome
human disease
DOID:0080458
early infantile epileptic encephalopathy 37 class of disease Ohtahara syndrome
human disease
DOID:0080435
early infantile epileptic encephalopathy 38 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous mutation in the ARV1 gene on chromosome 1q42
DOID:0080417
early infantile epileptic encephalopathy 39 class of disease Ohtahara syndrome
infantile epileptic encephalopathy that has material basis in mutation in the SLC25A12 gene on chromosome 2q31
DOID:0080349 DOID:0080423
early infantile epileptic encephalopathy 40 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12
DOID:0080427
early infantile epileptic encephalopathy 41 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SLC1A2 gene on chromosome 11p13
DOID:0080442
early infantile epileptic encephalopathy 42 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the CACNA1A gene on chromosome 19p13
DOID:0080454
early infantile epileptic encephalopathy 43 class of disease Ohtahara syndrome autosomal dominant disease early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRB3 gene on chromosome 15q11
DOID:0080447
early infantile epileptic encephalopathy 44 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22
DOID:0080424
early infantile epileptic encephalopathy 45 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRB1 gene on chromosome 4p13
DOID:0080428
early infantile epileptic encephalopathy 46 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GRIN2D gene on chromosome 19q13
DOID:0080456
early infantile epileptic encephalopathy 47 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the FGF12 gene on chromosome 3q28
DOID:0080425
early infantile epileptic encephalopathy 48 class of disease Ohtahara syndrome
human disease
DOID:0080448
early infantile epileptic encephalopathy 49 class of disease Ohtahara syndrome
human disease
DOID:0080441
early infantile epileptic encephalopathy 51 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has material basis in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11
DOID:0080433
early infantile epileptic encephalopathy 52 class of disease Ohtahara syndrome
human disease
DOID:0080455
early infantile epileptic encephalopathy 53 class of disease Ohtahara syndrome
human disease
DOID:0080464
early infantile epileptic encephalopathy 54 class of disease Ohtahara syndrome
human disease
DOID:0080418
early infantile epileptic encephalopathy 55 class of disease Ohtahara syndrome
human disease
DOID:0080283
early infantile epileptic encephalopathy 56 class of disease Ohtahara syndrome
human disease
DOID:0080282
early infantile epileptic encephalopathy 57 class of disease Ohtahara syndrome
human disease
DOID:0080284
early infantile epileptic encephalopathy 58 class of disease Ohtahara syndrome
human disease
DOID:0080285
early infantile epileptic encephalopathy 59 class of disease Ohtahara syndrome infantile epileptic encephalopathy autosomal dominant disease human disease
DOID:0080291
early infantile epileptic encephalopathy 60 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p
DOID:0080432
early infantile epileptic encephalopathy 61 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21
DOID:0080434
early infantile epileptic encephalopathy 62 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN3A gene on chromosome 2q24
DOID:0080420
early infantile epileptic encephalopathy 63 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16
DOID:0080426
early infantile epileptic encephalopathy 65 class of disease Ohtahara syndrome
human disease
DOID:0080430
early infantile epileptic encephalopathy 66 class of disease Ohtahara syndrome
early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the PACS2 gene on chromosome 14q32
DOID:0080446
early infantile epileptic encephalopathy 8 class of disease Ohtahara syndrome hyperekplexia
human disease
DOID:0080215
early infantile epileptic encephalopathy 82 class of disease autosomal recessive disease Ohtahara syndrome
human disease
DOID:0080715
early invasive cervical adenocarcinoma class of disease cervical adenocarcinoma Human disease
DOID:8307
early onset absence epilepsy class of disease childhood electroclinical syndrome childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years
DOID:0050708
early yaws class of disease yaws
A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
DOID:10568
early-onset vitamin B6-dependent epilepsy class of disease autosomal recessive disease epilepsy
human disease
DOID:0080769
eating disorder
class of disease specific developmental disorder nutrition disorder disease
habit of eating either insufficient or excessive food, to the detriment of health
DOID:8670
F03.400
Eating disorder
eccrine acrospiroma
class of disease eccrine sweat gland neoplasm Human disease
DOID:5442
C04.557.470.035.175.588 C04.557.470.550.175.588
eccrine adenocarcinoma class of disease eccrine sweat gland cancer adenocarcinoma
eccrine sweat gland cancer that derives from epithelial cells of glandular origin
DOID:4920
eccrine mixed tumor of skin
class of disease eccrine sweat gland neoplasm Human disease
DOID:2079
Chondroid syringoma
eccrine papillary adenocarcinoma class of disease eccrine adenocarcinoma Human disease
DOID:5591
eccrine sweat gland cancer class of disease sweat gland cancer eccrine sweat gland neoplasm Human disease
DOID:4921
eccrine sweat gland neoplasm class of disease sweat gland neoplasm human disease
DOID:173
eclampsia
class of disease pre-eclampsia disease life emergency pre-eclampsia characterized by the presence of seizures
DOID:13593 DOID:12269 DOID:12268
C13.703.395.124
Eclampsia
ecthyma
class of disease impetigo
Human disease
DOID:11907
C01.150.252.410.890.168 C01.150.252.819.210 C01.800.720.210 C17.800.695.210 C17.800.838.765.210
Ecthyma
ectodermal dysplasia 1 class of disease hypohidrotic ectodermal dysplasia X-linked recessive disease human disease
DOID:0111664
ectodermal dysplasia 10A class of disease hypohidrotic ectodermal dysplasia autosomal dominant disease human disease
DOID:0111663
ectodermal dysplasia 10B class of disease hypohidrotic ectodermal dysplasia autosomal recessive disease human disease
DOID:0111665
ectodermal dysplasia 11B class of disease hypohidrotic ectodermal dysplasia autosomal recessive disease human disease
DOID:0111654
ectodermal dysplasia 14 class of disease autosomal recessive disease ectodermal dysplasia
human disease
DOID:0111662
ectodermal dysplasia 15 class of disease ectodermal dysplasia autosomal recessive disease human disease
DOID:0111651
ectodermal dysplasia 4 class of disease autosomal recessive disease pure hair-nail type ectodermal dysplasia
human disease
DOID:0111658
ectodermal dysplasia 5 class of disease pure hair-nail type ectodermal dysplasia autosomal recessive disease human disease
DOID:0111657
ectodermal dysplasia 6 class of disease autosomal recessive disease pure hair-nail type ectodermal dysplasia
human disease
DOID:0111659
ectodermal dysplasia 7 class of disease autosomal recessive disease pure hair-nail type ectodermal dysplasia
human disease
DOID:0111660
ectodermal dysplasia 8 class of disease autosomal recessive disease ectodermal dysplasia
human disease
DOID:0111661
ectodermal dysplasia 9 class of disease autosomal recessive disease pure hair-nail type ectodermal dysplasia
human disease
DOID:0111656
ectomesenchymoma
class of disease central nervous system mesenchymal non-meningothelial tumor nervous system cancer human disease
DOID:4055
ectopic Cushing syndrome class of disease hyperaldosteronism ACTH-dependent Cushing syndrome human disease
DOID:0060890
C04.730.713.317
ectopic pregnancy
class of disease female reproductive system disease human pregnancy disease
female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity
DOID:0060329
C13.703.733
Ectopic pregnancy
ectopic thymus
class of disease thymus gland disease Human disease
DOID:6307
ectothrix infectious disease
class of disease tinea capitis vale hair diseases
Human disease
DOID:0050097
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 class of disease ectrodactyly–ectodermal dysplasia–cleft syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
DOID:0060784
ectrodactyly–ectodermal dysplasia–cleft syndrome
class of disease autosomal dominant disease ectodermal dysplasia syndrome
autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)
DOID:0060782
ectropion
class of disease eyelid disease human disease
DOID:1570
C11.338.362
Ectropion
eczematous dermatitis of eyelid class of disease noninfectious dermatoses of eyelid Human disease
DOID:1893
egg allergy
class of disease food allergy health effects of eggs food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms
DOID:4377
C20.543.480.370.150
ego-dystonic sexual orientation
class of disease gender dysphoria disease
psychiatric diagnosis
DOID:13352
electroclinical syndrome class of disease epilepsy
Human disease
DOID:0050701
elephantiasis
class of disease lymphedema
Human disease
DOID:4976
C15.604.496.320
Elephantiasis
embryoma
class of disease embryonal cancer carcinosarcoma and embryonal cancer that is located in embryonic tissue and results in a mass of rapidly growing cells
DOID:4766
Embryonal tumors
embryonal cancer class of disease germ cell cancer germ cell cancer that is associated with an embryo
DOID:688
embryonal carcinoma
class of disease embryonal cancer extragonadal germ cell cancer extragonadal non-dysgerminomatous germ cell tumor carcinoma disease
embryonal cancer that is a type of germ cell tumour, located in the ovaries or testes
DOID:3308
C04.557.465.200
Embryonal carcinoma
embryonal extrahepatic bile duct rhabdomyosarcoma class of disease bile duct rhabdomyosarcoma Human disease
DOID:3253
embryonal rhabdomyosarcoma
class of disease rhabdomyosarcoma embryonal cancer rhabdomyosarcoma with mesenchymally-derived malignant cells resembling the developing skeletal muscle of the embryo
DOID:3246
C04.557.450.590.550.660.675 C04.557.450.795.550.660.675
embryonal testis carcinoma class of disease embryonal carcinoma testicular cancer testicular non-seminomatous germ cell cancer testicular pure germ cell tumor embryonal carcinoma that is located in the testis
DOID:5680
emphysematous cholecystitis class of disease cystitis cholecystitis
bacterial infectious disease with inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues
DOID:9765
C06.130.564.263.500.500
enamel caries class of disease dental caries
Human disease
DOID:217
enamel erosion class of disease dental erosion
Human disease
DOID:2497
encapsulated thymoma class of disease thymoma
Human disease
DOID:3278
encephalitis
class of disease symptom or sign
brain inflammatory disease encephalopathy neurological symptom disease
acute inflammation of the brain with flu-like symptoms
DOID:9588
C10.228.140.430 C10.586.250
Encephalitis
encephalomalacia
class of disease encephalopathy
Human disease
DOID:2034
C10.228.140.461
encephalomyelitis
class of disease central nervous system disease inflammatory disease disease
inflammation of the brain and spinal cord
DOID:640
C10.228.228.291 C10.228.440 C01.207.291
Encephalomyelitis
encephalopathy
class of disease central nervous system disease disease
central nervous system diseases located in the brain
DOID:936
C10.228.140
Encephalopathy
encephalopathy due to defective mitochondrial and peroxisomal fission 1 class of disease syndrome
human disease
DOID:0070347
end stage renal failure class of disease chronic renal insufficiency
human disease
DOID:783
endemic goiter
class of disease goiter nutritional deficiency disease human disease
DOID:13198
C19.874.283.300
endobronchial leiomyoma
class of disease lung leiomyoma bronchial neoplasm Human disease
DOID:6608
endobronchial lipoma class of disease bronchial neoplasm respiratory system benign neoplasm lipoma
Human disease
DOID:10183
endocardial fibroelastosis
class of disease endocardium disease familial restrictive cardiomyopathy non-familial restrictive cardiomyopathy non-familial dilated cardiomyopathy endocardium disease that is characterized by endocardium becoming massively fibrosed and thickened wih elastic tissue resulting in a restrictive cardiomyopathy.
DOID:12929
C14.280.238.281
endocarditis
class of disease symptom or sign
endocardium disease pancarditis cardiovascular system symptom disease
endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves
DOID:10314
C14.280.282
Endocarditis
endocardium cancer class of disease heart cancer neoplasm of endocardium endocardium disease Human disease
DOID:5877
endocervical adenocarcinoma class of disease endocervical carcinoma adenocarcinoma
endocervical carcinoma that derives from epithelial cells of glandular origin
DOID:0050940
Endocervical adenocarcinoma
endocervical carcinoma class of disease cervix carcinoma malignant neoplasm of endocervix Human disease
DOID:7519
endocervical type cervical adenomyoma class of disease cervical adenomyoma Human disease
DOID:8177
endocervical type cervical mucinous adenocarcinoma class of disease cervical mucinous adenocarcinoma Human disease
DOID:8340
endocervicitis class of disease cervicitis inflammatory disease Human disease
DOID:5757
endocrine exophthalmos class of disease orbital disease exophthalmos
Human disease
DOID:12359
endocrine gland cancer class of disease organ system cancer endocrine gland neoplasm endocrine system disease
organ system cancer located in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system
DOID:170
endocrine organ benign neoplasm class of disease organ system benign neoplasm endocrine gland neoplasm endocrine system disease
organ system benign neoplasm that is located in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body
DOID:0060089
endocrine pancreas disease class of disease pancreas disease endocrine system disease
disease involving the endocrine pancreas
DOID:1428
endocrine system disease
class of disease disease of anatomical entity disease
type of disease affecting the endocrine system
DOID:28 DOID:1922
C19
Endocrine diseases and disorders
endodermal sinus pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:7302
endogenous depression
class of disease major depressive disorder endogenous mental disorder mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system
DOID:1595
endometrial adenocarcinoma class of disease endometrial carcinoma adenocarcinoma
endometrial carcinoma that derives from epithelial cells of glandular origin
DOID:2870
Endometrial adenocarcinoma
endometrial adenosquamous carcinoma class of disease adenosquamous carcinoma endometrial squamous cell carcinoma squamous cell carcinoma endometrial cancer
endometrial carcinoma that derives from squamous cells and gland-like cells
DOID:5631
endometrial cancer
class of disease uterine cancer uterine corpus cancer endometriosis endometrial neoplasm disease
uterine cancer that is located in tissues lining the uterus
DOID:1380
Endometrial cancer
endometrial carcinoma class of disease endometrial cancer carcinoma
endometrial cancer that is located in the tissue lining the uterus
DOID:2871
C04.557.470.200.025.240 C04.588.945.418.948.585.124 C13.351.500.056.630.705.331 C13.351.937.418.685.331 C13.351.937.418.875.200.124 C19.391.630.705.331
endometrial clear cell adenocarcinoma class of disease endometrial adenocarcinoma clear cell adenocarcinoma
Human disease
DOID:5299
endometrial disease class of disease uterine disease Human disease
DOID:1005
Diseases and disorders of endometrium
endometrial hyperplasia
class of disease uterine benign neoplasm endometrial disease disease
uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium
DOID:0080365
C13.351.500.852.228
endometrial mixed adenocarcinoma class of disease endometrial adenocarcinoma Human disease
DOID:7664
endometrial mucinous adenocarcinoma class of disease endometrial adenocarcinoma mucinous adenocarcinoma human disease
DOID:3707
endometrial small cell carcinoma class of disease uterine cancer endometrial cancer carcinoma
Human disease
DOID:7139
endometrial squamous cell carcinoma class of disease endometrial carcinoma squamous cell carcinoma
Human disease
DOID:5533
endometrial stromal nodule
class of disease uterine benign neoplasm endometrial stromal tumour
human disease
DOID:1373
endometrial stromal sarcoma
class of disease endometrial stromal tumour
human disease
DOID:4226
C04.557.435.775 C04.557.450.795.332.500 C13.351.500.852.762.200.500.500 C13.351.937.418.875.200.374.500
Endometrial stromal sarcoma
endometrial stromal tumour
class of disease endometrial cancer
human disease
DOID:5166
C04.557.450.565.325 C04.557.450.795.332 C13.351.500.852.762.200.500 C13.351.937.418.875.200.374
endometrial transitional cell carcinoma class of disease endometrial carcinoma transitional cell carcinoma
Human disease
DOID:4005
endometrial type cervical adenomyoma class of disease cervical adenomyoma Human disease
DOID:8178
endometrioid ovary carcinoma class of disease ovary adenocarcinoma endometrial adenocarcinoma uterine cancer endometrial carcinoma ovarian endometrial cancer Human disease
DOID:5828
endometriosis
class of disease female reproductive system disease endometrial disease disease
disease linked to the female reproductive system
DOID:289
C12.050.351.500.163 C12.100.250.163
Endometriosis
endometriosis of intestine class of disease endometriosis intestinal disease
Human disease
DOID:11428
Endometriosis of intestine
endometriosis of ovary
class of disease endometriosis ovarian disease
Human disease
DOID:11432
endometriosis of pelvic peritoneum class of disease endometriosis
Human disease
DOID:11429
endometriosis of rectovaginal septum and vagina class of disease endometriosis vaginal disease
Human disease
DOID:11431
endometritis
class of disease endometrial disease disease
inflammation of inner lining of uterus
DOID:1002
C13.351.500.056.750.249 C13.351.500.852.299
Endometritis
endometrium carcinoma in situ class of disease in situ carcinoma endometriosis uterus carcinoma in situ Human disease
DOID:5172
endomyocardial fibrosis class of disease restrictive cardiomyopathy
Human disease
DOID:12932
C14.280.238.406
endophthalmitis
class of disease globe disease eye inflammation disease
globe disease that is characterized by inflammation of the inside of the eye
DOID:4692
C01.375.265 C11.294.265
endosalpingiosis
class of disease endometriosis
Human disease
DOID:11427
Endosalpingiosis
endothrix infectious disease
class of disease tinea capitis vale hair diseases
tinea capitis that results in fungal infection located in hair, has material basis in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only
DOID:0050105
enhanced S-cone syndrome
class of disease retinal disease vitreoretinal degeneration unclassified primitive or secondary maculopathy genetic disease autosomal recessive disease Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)
DOID:0090059
enophthalmos
class of disease orbital disease enophthalmia disease
posterior displacement of the eyeball within the orbit due to changes in the volume of the orbit (bone) relative to its contents
DOID:11175
C11.675.319
enteric pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:8362
enterocele
class of disease pelvic organ prolapse
Human disease
DOID:1283
Enterocele
enthesopathy
class of disease connective tissue disease disease
human disease: a disorder involving the attachment of a tendon or ligament to a bone
DOID:204
C05.651.869.653 C26.874.800.750
Enthesopathy
entropion
class of disease eyelid disease disease
medical condition in which the eyelid (usually the lower lid) folds inward
DOID:12397
C11.338.443
Entropion
environmental induced asthma class of disease intrinsic asthma human disease
DOID:0080819
eosinophilia-myalgia syndrome
class of disease eosinophilia
Human disease
DOID:998
C05.651.290 C10.668.491.387 C15.378.553.231.335
Eosinophilia–myalgia syndrome
eosinophilic gastritis class of disease gastritis chronic gastritis
Human disease
DOID:4030
eosinophilic meningitis class of disease chronic meningitis
Human disease
DOID:10361
eosinophilic pneumonia
class of disease pneumonia eosinophilia disease
disease in which an eosinophil, a type of white blood cell, accumulates in the lung
DOID:9498 DOID:5870
C08.381.750 C15.378.553.231.549.750
eosinophilic variant of chromophobe renal cell carcinoma class of disease chromophobe renal cell carcinoma Human disease
DOID:6606
ependymal tumor
class of disease ependymal tumor cerebral ventricle cancer carcinoma
malignant glioma that is derived from ependymal cells, a type of glial cell, located in ventricle lining within the central part of the brain
DOID:5074
Ependymal tumors
epicardium cancer class of disease pericardium cancer neoplasm of epicardium Human disease
DOID:4699
epicardium lipoma class of disease heart lipoma lipoma benign neoplasm of epicardium Human disease
DOID:6284
epidermal appendage tumor class of disease skin benign neoplasm Adnexal and skin appendage neoplasms epidermal appendage disease neoplasms located in skin appendages
DOID:2433
epidermodysplasia verruciformis
class of disease autosomal recessive disease viral infectious disease skin disease immune deficiency with skin involvement other immunodeficiency syndromes due to defects in innate immunity primary immunodeficiency disease disease
Human disease
DOID:13777
C01.925.256.650.810.345 C01.925.825.810.260 C01.925.928.914.345 C17.800.838.790.810.260
Epidermodysplasia verruciformis
epidermolysis bullosa acquisita
class of disease epidermolysis bullosa pemphigoid bullous skin disease autoimmune skin disease chronic subepidermal blistering disease associated with autoimmunity to type VII collagen
DOID:4313
C16.131.831.493.080 C17.800.804.493.080 C17.800.827.275.080 C17.800.865.410.080
epidermolysis bullosa herpetiformis
class of disease epidermolysis bullosa simplex basal epidermolysis bullosa simplex genetic disease autosomal dominant disease Human disease
DOID:0060735
epidermolysis bullosa with congenital localized absence of skin and deformity of nails class of disease dominant dystrophic epidermolysis bullosa autosomal dominant disease human disease
DOID:0111347
epidermolytic acanthoma
class of disease acanthoma
Human disease
DOID:4323
epidermolytic hyperkeratosis
class of disease skin disease congenital ichthyosiform erythroderma keratinopathic ichthyosis rare and severe form of ichthyosis
DOID:4603
C16.131.831.512.400.375 C16.320.850.400.375 C16.614.492.400.375 C17.800.428.333.250.375 C17.800.804.512.400.375 C17.800.827.400.375
Epidermolytic ichthyosis
epididymal neoplasm class of disease male reproductive system neoplasm epididymis disease testicular cancer
Human disease
DOID:512
epididymis adenocarcinoma class of disease epididymis cancer adenocarcinoma
epididymis cancer that derives from epithelial cells of glandular origin
DOID:10368
epididymis adenomatoid tumor class of disease male reproductive organ benign neoplasm adenomatoid tumor benign neoplasm of epididymis adenoma
Human disease
DOID:745
epididymis cancer class of disease male reproductive organ cancer epididymal neoplasm epididymis disease Human disease
DOID:10366
epididymis disease class of disease male reproductive system disease
human disease
DOID:0080373
epidural abscess
class of disease central nervous system disease abscess central nervous system cancer human disease
DOID:11387
C01.207.300 C10.228.228.300 C10.228.228.709.350 C10.228.854.303 C01.207.709.350 C01.830.025.325
epidural neoplasm class of disease Spinal cord cancer Human disease
DOID:3618
C04.588.614.250.803.342 C10.228.854.765.342 C10.551.240.750.200
epidural spinal canal angiolipoma class of disease angiolipoma epidural neoplasm cell type cancer spinal cord disease central nervous system organ benign neoplasm Human disease
DOID:3617
epidural spinal canal meningioma class of disease spinal canal and spinal cord meningioma Human disease
DOID:3809
epiglottis neoplasm class of disease supraglottis neoplasm neoplasm of hypopharynx Human disease
DOID:7105
epilepsy
class of disease dictionary page in Wikipedia encephalopathy disease
human neurological disease causing seizures
DOID:1826
C10.228.140.490
Epilepsy
epilepsy, idiopathic generalized, susceptibility to, 8 class of disease genetic disease rare genetic epilepsy generalized epilepsy
human disease
DOID:0111322
epiphora due to excess lacrimation class of disease excessive tearing
Human disease
DOID:14244
epiphora due to insufficient drainage class of disease excessive tearing
Human disease
DOID:13756
epiphyseal dysplasia, multiple, 6 class of disease multiple epiphyseal dysplasia genetic disease multiple epiphyseal dysplasia due to collagen 9 anomaly autosomal dominant disease human disease
DOID:0070301
epiretinal membrane
class of disease retinal disease degeneration of macula and posterior pole disease of the eye in response to changes in the vitreous humor or more rarely, diabetes
DOID:2006
C11.768.328
Epiretinal membrane
episcleritis periodica fugax class of disease scleral disease episcleritis
Human disease
DOID:12124
episodic kinesigenic dyskinesia 2 class of disease dystonia genetic disease autosomal dominant disease A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.
DOID:0090054
epithelial and subepithelial dystrophy class of disease corneal dystrophy
Human disease
DOID:0060440
epithelial malignant thymoma class of disease dendritic cell thymoma Human disease
DOID:7926
epithelial predominant Wilms' tumor class of disease nephroblastoma
Human disease
DOID:5189
epithelial predominant pulmonary blastoma class of disease pulmonary blastoma Human disease
DOID:4768
epithelial-myoepithelial carcinoma
class of disease malignant epithelial tumor of salivary glands salivary gland cancer Human disease
DOID:5309
Epithelial-myoepithelial carcinoma
epithelial-stromal TGFBI dystrophy class of disease corneal dystrophy stromal dystrophy human disease
DOID:0060441
epithelioid cell melanoma class of disease melanoma
Human disease
DOID:4360
epithelioid cell synovial sarcoma class of disease synovial sarcoma monophasic synovial sarcoma Human disease
DOID:5494
epithelioid inflammatory myofibroblastic sarcoma class of disease inflammatory myofibroblastic tumour
human disease
DOID:0080372
epithelioid leiomyosarcoma class of disease leiomyosarcoma
Human disease
DOID:5264
epithelioid malignant peripheral nerve sheath tumor class of disease malignant peripheral nerve sheath tumor
Human disease
DOID:8353
epithelioid neurofibroma class of disease neurofibroma
Human disease
DOID:5149
epithelioid sarcoma
class of disease soft-tissue sarcoma connective tissue neoplasm sarcoma
human disease
DOID:6193
Epithelioid sarcoma
epithelioid trophoblastic tumor
class of disease cervical uterine cancer lung cancer cell type cancer gestational trophoblastic disease trophoblastic neoplasm
Human disease
DOID:3593
epithelioid type angiomyolipoma class of disease angiomyolipoma
angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia
DOID:3318
Epithelioid angiomyolipoma
epithelioma cuniculatum
class of disease verrucous carcinoma Foot Dermatoses cutaneous squamous-cell carcinoma
Human disease
DOID:3751
epulis
class of disease gingival overgrowth
Human disease
DOID:5337
Epulis
equatorial staphyloma class of disease scleral staphyloma Human disease
DOID:13788
erectile dysfunction
class of disease symptom or sign
sexual dysfunction reproductive system symptom disease
form of sexual dysfunction in males
DOID:1875
C12.100.500.214 F03.835.400 C12.100.875.486 C12.200.294.214
Erectile dysfunction
erythema elevatum diutinum
class of disease vasculitis reactive neutrophilic dermatose immune complex mediated vasculitis vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks
DOID:0060567
Erythema elevatum diutinum
erythema multiforme
class of disease skin disease erythema allergy disease
skin disease that is a type of allergic reaction located in skin, which occurs in response to medications, infections, or illness
DOID:0050185
C17.800.229.400 C17.800.865.475
Erythema multiforme
erythema nodosum
class of disease reactive neutrophilic dermatose clinical sign panniculitis disease
skin disease
DOID:0080750
C17.800.174.600.375 C17.800.229.413 C20.543.206.380.375 C25.100.468.380.375
Erythema nodosum
erythematosquamous dermatosis class of disease skin disease
Human disease
DOID:9097
erythrasma
class of disease pyoderma Corynebacterium infection disease
Human disease
DOID:4131
C01.150.252.410.040.246.694 C01.150.252.819.320 C01.800.720.320 C17.800.838.765.320
Erythrasma
erythrokeratodermia variabilis et progressiva 1 class of disease autosomal dominant disease autosomal recessive disease erythrokeratodermia variabilis
An erythrokeratodermia variabilis that has material basis in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
DOID:0111195
erythrokeratodermia variabilis et progressiva 2 class of disease erythrokeratodermia variabilis autosomal dominant disease human disease
DOID:0080248
erythrokeratodermia variabilis et progressiva 3 class of disease erythrokeratodermia variabilis autosomal dominant disease human disease
DOID:0080249
erythrokeratodermia variabilis et progressiva 4 class of disease erythrokeratodermia variabilis
human disease
DOID:0080250
erythrokeratodermia variabilis et progressiva 5 class of disease erythrokeratodermia variabilis autosomal recessive disease human disease
DOID:0080251
erythrokeratodermia variabilis et progressiva 6 class of disease erythrokeratodermia variabilis autosomal dominant disease human disease
DOID:0080766
erythropoietin polycythemia class of disease acquired polycythemia Human disease
DOID:2839
esophageal adenoid cystic carcinoma class of disease esophageal carcinoma esophageal carcinoma that derives from epithelial cells of the salivary gland
DOID:4878
esophageal adenosquamous carcinoma class of disease adenosquamous carcinoma squamous cell carcinoma esophageal cancer
esophageal carcinoma that derives from squamous cells and gland-like cells
DOID:5625
esophageal basaloid squamous cell carcinoma class of disease basaloid squamous cell carcinoma esophageal cancer squamous cell carcinoma
Human disease
DOID:7051
esophageal cancer
class of disease esophageal neoplasm esophageal disease gastrointestinal system cancer disease
gastrointestinal system cancer that is located in the esophagus
DOID:5041
Esophageal cancer
esophageal candidiasis
class of disease candidiasis fungal esophagitis esophageal disease
candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain
DOID:13146
Esophageal candidiasis
esophageal carcinoma class of disease esophageal cancer carcinoma
esophageal cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:1107
esophageal disease
class of disease gastrointestinal system disease
gastrointestinal system disease that is located in the esophagus
DOID:6050
C06.405.117
Diseases and disorders of the esophagus
esophageal diverticulosis class of disease esophageal disease esophageal diverticulum Human disease
DOID:13185
C06.405.117.136 C06.405.205.282.500.438
esophageal leukoplakia class of disease esophageal disease leukoplakia
Human disease
DOID:9021
esophageal neuroendocrine tumor class of disease esophageal cancer
Human disease
DOID:5784
esophageal varix
class of disease vein disorder esophageal disease esophageal and gastric varices disease
Human disease
DOID:112
Esophageal varices
esophagus adenocarcinoma class of disease esophageal carcinoma adenocarcinoma
esophageal carcinoma that derives from epithelial cells of glandular origin
DOID:4914
Adenocarcinomas of esophagus
esophagus carcinoma in situ class of disease in situ carcinoma esophageal disease
Human disease
DOID:9095
esophagus leiomyoma class of disease benign neoplasm of esophagus esophageal disease gastrointestinal system benign neoplasm Human disease
DOID:960
esophagus leiomyosarcoma class of disease esophagus sarcoma Human disease
DOID:5276
esophagus liposarcoma class of disease esophagus sarcoma liposarcoma esophageal cancer
Human disease
DOID:5694
esophagus small cell carcinoma class of disease esophageal carcinoma esophageal neuroendocrine tumor inherited neuroendocrine tumor small cell carcinoma
Human disease
DOID:7134
esophagus squamous cell carcinoma class of disease esophageal carcinoma squamous cell carcinoma
esophageal carcinoma that derives from epithelial squamous cells located in the esophagus
DOID:3748
Squamous-cell carcinoma of esophagus
esophagus squamous cell papilloma class of disease benign neoplasm of esophagus esophageal disease gastrointestinal system benign neoplasm Human disease
DOID:959
Esophageal squamous papilloma
esophagus verrucous carcinoma class of disease esophagus squamous cell carcinoma verrucous carcinoma
Human disease
DOID:3747
esotropia
class of disease strabismus
Esotropia is a strabismus in which the eye turns inward toward the nose
DOID:9840
C10.292.562.887.300 C11.590.810.400
Esotropia
essential hypertension
class of disease arterial hypertension disease
hypertension with no known cause, the most common type of hypertension
DOID:10825
C14.907.489.165
essential tremor 1 class of disease autosomal dominant disease essential tremor
human disease
DOID:0111428
essential tremor 2 class of disease autosomal dominant disease essential tremor
human disease
DOID:0111429
essential tremor 3 class of disease essential tremor
human disease
DOID:0111430
essential tremor 4 class of disease essential tremor autosomal dominant disease human disease
DOID:0111431
essential tremor 5 class of disease essential tremor autosomal dominant disease human disease
DOID:0111432
esthesioneuroblastoma
class of disease blastoma head and neck cancer olfactory nerve neoplasm disease
rare cancer of the nasal cavity
DOID:369
C04.557.465.625.600.590.650.550.150 C04.557.470.670.590.650.550.150 C04.557.580.625.600.590.650.550.150 C10.292.650.200
estrogen excess
class of disease ovarian dysfunction Human disease
DOID:14336
estrogen-receptor negative breast cancer class of disease breast cancer
Human disease
DOID:0060076
estrogen-receptor positive breast cancer class of disease breast cancer Hormone receptor positive breast tumor
Human disease
DOID:0060075
ethmoid sinus adenocarcinoma class of disease ethmoid sinus cancer adenocarcinoma
ethmoid sinus cancer that derives from epithelial cells of glandular origin
DOID:2766
ethmoid sinus cancer class of disease paranasal sinus cancer ethmoidal sinus neoplasm Human disease
DOID:1363
ethmoid sinus squamous cell carcinoma class of disease ethmoid sinus cancer squamous cell carcinoma
Human disease
DOID:2763
ethmoid sinusitis class of disease sinusitis
sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead
DOID:9507
C08.460.692.752.267 C08.730.749.267 C09.603.692.752.267 C01.748.749.267
ethmoidal sinus neoplasm class of disease paranasal sinus neoplasm Human disease
DOID:1364
eumycotic mycetoma
class of disease dermatomycosis mycetoma disease
chronic granulomatous fungal disease of humans
DOID:13078
Madura foot
eunuchism class of disease hypogonadism, male hypogonadism disease
hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones
DOID:5003
C19.391.482.293
Eunuchoidism
euthyroid sick syndrome
class of disease thyroid gland disease
Secondary allostasis of thyroid function in fetal life, starving and in critical illness
DOID:2856
C19.874.255
eversion of lacrimal punctum class of disease lacrimal apparatus disease Human disease
DOID:13651
exanthem
class of disease symptom or sign
skin disease rash disease
human disease
DOID:0050486
C17.800.257
Exanthem
exanthema subitum
class of disease viral infectious disease Roseolovirus infectious disease disease
Human disease
DOID:0050495
C01.925.256.466.850.290 C01.925.825.290 C17.800.257.335 C17.800.838.790.290
Roseola
excessive tearing
class of disease symptom or sign
lacrimal apparatus disease tear secretion eye symptom disease
overflow of tears onto the face
DOID:13757
Epiphora (medicine)
excoriation class of disease symptom or sign
dermatitis disease
human disease
DOID:9165
exercise-induced bronchoconstriction
class of disease asthma dyspnea on effort intrinsic asthma medical condition
DOID:0080821
C08.127.108.110 C08.674.095.110 C20.543.480.680.095.110
exfoliation syndrome
class of disease iris disease hereditary glaucoma phacogenic glaucoma syndrome that occurs when tiny flakes of dandruff-like material build up in the body and are found in the heart, kidneys, liver, lungs, and eye
DOID:13641
C11.941.375.285
exocervical carcinoma class of disease cervix carcinoma Human disease
DOID:2892
exocrine pancreatic insufficiency
class of disease pancreas disease
Human disease
DOID:13316
C06.689.276
exophthalmic ophthalmoplegia class of disease ophthalmoplegia
Human disease
DOID:13135
exostosis
class of disease hyperostosis
hyperostosis that involves formation of new bone on the surface of preexisting bone
DOID:203
C05.116.540.310
Exostoses
exotropia
class of disease strabismus
form of strabismus where the eyes are deviated outward
DOID:1143
C10.292.562.887.650 C11.590.810.440
Exotropia
exposure keratitis
class of disease keratoconjunctivitis
Human disease
DOID:9461
expressive language disorder
class of disease language disorder specific language impairment-5 neurodevelopmental condition
DOID:11385
external auditory meatus lipoma class of disease sensory organ benign neoplasm lipoma external ear neoplasm benign neoplasm of ear Human disease
DOID:10203
external resorption
class of disease tooth resorption
human disease
DOID:14529
extra-adrenal pheochromocytoma class of disease malignant pheochromocytoma adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin
DOID:0050936
extracranial neuroblastoma class of disease neuroblastoma
Human disease
DOID:371
extracutaneous mastocytoma
class of disease systemic mastocytosis mastocytoma connective tissue neoplasm benign mastocytoma genetic hematologic disease rare genetic immune disease inherited tumor rare genetic bone disease Human disease
DOID:4659
extragonadal germ cell cancer class of disease germ cell cancer extragonadal germ cell tumor A germ cell cancer that derives from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.
DOID:4717
extragonadal nonseminomatous germ cell tumor class of disease extragonadal germ cell cancer brain cancer mediastinal cancer extragonadal non-dysgerminomatous germ cell tumor germ cell cancer nongerminomatous germ cell tumor extragonadal germ cell cancer that are located in the pineal gland in the brain, located in the mediastinum or located in the abdomen
DOID:5677
extragonadal seminoma class of disease seminoma
Human disease
DOID:5838
extrahepatic bile duct adenocarcinoma class of disease extrahepatic bile duct carcinoma adenocarcinoma bile duct adenocarcinoma extrahepatic bile duct carcinoma that derives from epithelial cells of glandular origin
DOID:3495
extrahepatic bile duct adenoma class of disease bile duct adenoma biliary tract neoplasm bile duct ademona and neoplasm of extrahepatic bile duct that are composed of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium
DOID:5438
extrahepatic bile duct carcinoma class of disease bile duct carcinoma bile duct cancer Human disease
DOID:4682
extrahepatic bile duct cystadenoma class of disease bile duct cystadenoma extrahepatic bile duct adenoma Human disease
DOID:8105
extrahepatic bile duct leiomyoma class of disease leiomyoma bile duct disease biliary tract neoplasm liver leiomyoma Human disease
DOID:5125
extrahepatic bile duct leiomyosarcoma class of disease bile duct sarcoma leiomyosarcoma extrahepatic bile duct carcinoma liver leiomyosarcoma leiomyosarcoma and sarcoma of bile duct that is located in the bile duct or located in the outside of the liver
DOID:5293
extrahepatic bile duct lipoma class of disease biliary tract neoplasm lipoma bile duct disease liver lipoma human disease
DOID:10209
extrahepatic bile duct papillary adenoma class of disease extrahepatic bile duct adenoma biliary papillomatosis
Human disease
DOID:7503
extrahepatic bile duct small cell adenocarcinoma class of disease extrahepatic bile duct adenocarcinoma liver neuroendocrine carcinoma Human disease
DOID:5926
extrahepatic biliary papillomatosis class of disease biliary papillomatosis
Human disease
DOID:7752
extrahepatic cholestasis class of disease cholestasis non-neoplastic bile duct disorder Human disease
DOID:13619
C06.130.120.135.150
extramedullary plasmacytoma class of disease plasmacytoma
Human disease
DOID:3720
extranodal NK/T-cell lymphoma, nasal type
class of disease T-cell lymphoma mature T-cell and NK-cell lymphoma nasal cavity cancer medical condition
DOID:0080797
C04.557.386.480.750.199
extraosseous Ewing's sarcoma
class of disease Ewing sarcoma
Human disease
DOID:4232
extraosseous Ewings sarcoma-primitive neuroepithelial tumor class of disease extraosseous Ewing's sarcoma
Human disease
DOID:4985
extraosseous chondrosarcoma class of disease chondrosarcoma
chondrosarcoma that is located in exclusively soft tissue
DOID:4549
extraosseous osteosarcoma class of disease osteosarcoma connective tissue neoplasm
Human disease
DOID:3357
extrapulmonary tuberculosis
class of disease tuberculosis
respiratory disease
DOID:0050598
C01.150.252.410.040.552.846.617
Extrapulmonary tuberculosis
extrapyramidal and movement disorder class of disease movement disorders neurological disorder
disease of the nervous system
DOID:13839
extraskeletal chondroma class of disease connective tissue benign neoplasm Human disease
DOID:3814
extraskeletal mesenchymal chondrosarcoma class of disease extraosseous chondrosarcoma mesenchymal chondrosarcoma
Human disease
DOID:4548
extraskeletal myxoid chondrosarcoma class of disease extraosseous chondrosarcoma myxoid chondrosarcoma
extraosseous chondrosarcoma that has material basis in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix
DOID:6496
extratemporal epilepsy class of disease epilepsy focal epilepsy
epilepsy syndrome that is located in an area of the brain other than the temporal lobe
DOID:2544
extrinsic allergic alveolitis
class of disease symptom or sign
occupational disease interstitial lung disease allergy disease
human disease
DOID:841
C08.381.483.125 C08.674.055 C20.543.480.680.075
Hypersensitivity pneumonitis
extrinsic asthma class of disease chronic asthma allergy
human disease
DOID:0080811
exudative glomerulonephritis class of disease glomerulonephritis
Human disease
DOID:4777
exudative vitreoretinopathy 1 class of disease exudative vitreoretinopathy autosomal dominant disease human disease
DOID:0111412
exudative vitreoretinopathy 3 class of disease exudative vitreoretinopathy autosomal dominant disease human disease
DOID:0111409
exudative vitreoretinopathy 4 class of disease exudative vitreoretinopathy autosomal genetic disease human disease
DOID:0111411
exudative vitreoretinopathy 5 class of disease exudative vitreoretinopathy autosomal dominant disease human disease
DOID:0111408
exudative vitreoretinopathy 6 class of disease exudative vitreoretinopathy autosomal dominant disease human disease
DOID:0111410
exudative vitreoretinopathy 7 class of disease exudative vitreoretinopathy autosomal dominant disease human disease
DOID:0080264
eye accommodation disease class of disease eye disease refraction or accommodation disorder Human disease
DOID:10034
eye carcinoma class of disease ocular cancer carcinoma
ocular cancer that has material basis in abnormally proliferating cells, derives from epithelial cells and arises from the tissues that cover structures located in the eye
DOID:295
eye degenerative disease class of disease eye disease degenerative disease
neurodegenerative disease that involves the eye
DOID:9799
eye disease
class of disease eye and adnexa disease sensory system disease organ-specific disease health condition negatively affecting the eye
DOID:5614
C11
Diseases and disorders of the eye and adnexa
eyelid disease class of disease eye adnexa disease skin disease
adnexa disease that is located in the eyelid
DOID:530
C11.338
eyelid neoplasm class of disease skin neoplasm eyelid disease facial neoplasm skin benign neoplasm human disease
DOID:2173
C04.588.443.392.500 C11.319.421 C11.338.526
facial dermatosis class of disease skin disease head and neck disease Human disease
DOID:3134
C17.800.271
facial nerve disease class of disease cranial nerve disease
human disease
DOID:1756
C07.465.299 C10.292.319
facial nerve neoplasm class of disease cranial nerve neoplasm facial nerve disease Human disease
DOID:1760
Facial nerve neoplasms
facial neuralgia class of disease neuralgia facial nerve disease orofacial pain cranial neuralgia human disease
DOID:13865
C07.465.299.625 C10.292.319.625
facioscapulohumeral muscular dystrophy
class of disease muscular dystrophy disease
Muscular dystrophy that classically weakens the muscles of the face (facio), shoulder girdle (scapulo) and upper arm (humerus). Weakness usually is asymmetrical and develops in other areas of the body as well, such as the abdomen and shin.
DOID:11727
C05.651.534.500.400 C10.668.491.175.500.400 C16.320.577.400
Facioscapulohumeral muscular dystrophy
facioscapulohumeral muscular dystrophy 1 class of disease facioscapulohumeral muscular dystrophy
facioscapulohumeral muscular dystrophy that has material basis in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35
DOID:0111192
facioscapulohumeral muscular dystrophy 2 class of disease digenic disease facioscapulohumeral muscular dystrophy
A facioscapulohumeral muscular dystrophy that has material basis in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.
DOID:0111193
factitious disorder
class of disease mental disorder
disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness
DOID:1766
F03.875.375
Factitious disorders
factor VII deficiency
class of disease inherited blood coagulation disease blood coagulation disease autosomal recessive disease Human disease
DOID:2215
C15.378.100.100.310 C15.378.100.141.310 C15.378.463.310 C16.320.099.310
factor X deficiency
class of disease inherited blood coagulation disease blood coagulation disease autosomal recessive disease Human disease
DOID:2222
C15.378.100.100.320 C15.378.100.141.320 C15.378.463.320 C16.320.099.320
fallopian tube adenocarcinoma class of disease fallopian tube carcinoma adenocarcinoma
fallopian tube carcinoma that derives from epithelial cells of glandular origin
DOID:3706
fallopian tube adenofibroma class of disease fallopian tube benign neoplasm adenofibroma serous adenofibroma Human disease
DOID:5478
fallopian tube adenomatoid tumor class of disease fallopian tube benign neoplasm adenomatoid tumor adenoma
Human disease
DOID:5196
Adenomatoid tumor of fallopian tube
fallopian tube adenosarcoma class of disease fallopian tube carcinosarcoma Human disease
DOID:1973
fallopian tube benign neoplasm class of disease female reproductive organ benign neoplasm fallopian tube neoplasm fallopian tube disease Human disease
DOID:0060111
fallopian tube cancer
class of disease female reproductive organ cancer fallopian tube neoplasm fallopian tube disease female reproductive organ cancer that is located in fallopian tube
DOID:1964
Fallopian tube cancer
fallopian tube carcinoma class of disease fallopian tube cancer carcinoma
fallopian tube cancer that is located in the fallopian tube
DOID:1963
fallopian tube carcinosarcoma class of disease fallopian tube cancer
fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has material basis in epithelial tissue and has material basis in connective tissue
DOID:1970
fallopian tube clear cell adenocarcinoma class of disease fallopian tube adenocarcinoma clear cell adenocarcinoma
Human disease
DOID:5301
fallopian tube cystadenofibroma class of disease fallopian tube adenofibroma cystadenofibroma Human disease
DOID:8211
fallopian tube disease class of disease female reproductive system disease adnexal disease Human disease
DOID:1962
C13.351.500.056.390
Diseases and disorders of fallopian tubes
fallopian tube endometrioid adenocarcinoma class of disease fallopian tube adenocarcinoma Human disease
DOID:5831
fallopian tube endometriosis class of disease fallopian tube disease endometriosis
human disease
DOID:11424
Endometriosis of fallopian tube
fallopian tube germ cell cancer class of disease fallopian tube cancer germ cell cancer Human disease
DOID:5324
fallopian tube gestational choriocarcinoma class of disease fallopian tube carcinoma gestational choriocarcinoma fallopian tube germ cell cancer familiar fallopian tube carcinoma Human disease
DOID:8186
fallopian tube leiomyoma class of disease fallopian tube benign neoplasm leiomyoma
Human disease
DOID:5124
fallopian tube leiomyosarcoma class of disease fallopian tube cancer leiomyosarcoma
Human disease
DOID:1965
fallopian tube mucinous adenocarcinoma class of disease fallopian tube adenocarcinoma fallopian tube mucinous tumor mucinous adenocarcinoma human disease
DOID:3704
fallopian tube mucinous tumor class of disease fallopian tube benign neoplasm mucinous tumor fallopian tube cancer
Human disease
DOID:3705
fallopian tube papillary adenocarcinoma class of disease fallopian tube adenocarcinoma Human disease
DOID:5597
fallopian tube serous adenocarcinoma class of disease fallopian tube adenocarcinoma serous cystadenocarcinoma
Human disease
DOID:5598
fallopian tube serous papilloma class of disease fallopian tube benign neoplasm Human disease
DOID:3173
fallopian tube squamous cell carcinoma class of disease fallopian tube carcinoma squamous cell carcinoma
Human disease
DOID:5540
fallopian tube teratoma class of disease fallopian tube germ cell cancer fallopian tube cancer
Human disease
DOID:5564
fallopian tube transitional cell carcinoma class of disease fallopian tube carcinoma transitional cell carcinoma
Human disease
DOID:4008
familial GPIHBP1 deficiency class of disease autosomal recessive disease familial chylomicronemia syndrome hyperlipoproteinemia type I human disease
DOID:0111420
familial adenomatous polyposis 1 class of disease familial adenomatous polyposis autosomal dominant disease familial adenomatous polyposis that has material basis in heterozygous mutation in the APC gene on chromosome 5q22
DOID:0080409
familial adenomatous polyposis 2 class of disease familial adenomatous polyposis autosomal recessive disease familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34
DOID:0080410
familial adenomatous polyposis 3 class of disease familial adenomatous polyposis
familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13
DOID:0080411
familial adult myoclonic epilepsy 4 class of disease myoclonic epilepsy benign adult familial myoclonic epilepsy autosomal dominant disease human disease
DOID:0111693
familial adult myoclonic epilepsy 6 class of disease autosomal dominant disease benign adult familial myoclonic epilepsy human disease
DOID:0111696
familial adult myoclonic epilepsy 7 class of disease benign adult familial myoclonic epilepsy autosomal dominant disease human disease
DOID:0111694
familial bicuspid aortic valve class of disease bicuspid aortic valve aortic valve disease human disease
DOID:0080332
familial chronic myelocytic leukemia-like syndrome class of disease chronic myeloid leukemia
chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)
DOID:0060761
familial chylomicronemia due to inhibition of lipoprotein lipase activity class of disease familial chylomicronemia syndrome hyperlipoproteinemia type I human disease
DOID:0111419
familial chylomicronemia syndrome class of disease hyperlipidemia familial hyperlipidemia Primary hyperchylomicronemia human disease
DOID:0111417
familial cold autoinflammatory syndrome 1 class of disease familial cold urticaria genetic disease
familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP gene on chromosome 1q44
DOID:0090062
familial episodic pain syndrome
class of disease neuropathic pain peripheral neuropathy
human disease
DOID:0111728
familial episodic pain syndrome 1 class of disease familial episodic pain syndrome autosomal dominant disease human disease
DOID:0111729
familial episodic pain syndrome 2 class of disease familial episodic pain syndrome autosomal dominant disease human disease
DOID:0111730
familial episodic pain syndrome 3 class of disease familial episodic pain syndrome autosomal dominant disease human disease
DOID:0111731
familial erythrocytosis 1 class of disease primary polycythemia autosomal dominant disease Human disease
DOID:0060652
familial erythrocytosis 3 class of disease primary polycythemia autosomal dominant disease human disease
DOID:0080338
familial erythrocytosis 4 class of disease primary polycythemia human disease
DOID:0080339
familial erythrocytosis 5 class of disease primary polycythemia autosomal dominant disease human disease
DOID:0080290
familial erythrocytosis 6 class of disease primary polycythemia human disease
DOID:0111632
familial erythrocytosis 7 class of disease primary polycythemia human disease
DOID:0111631
familial febrile seizures 1 class of disease febrile seizures, familial human disease
DOID:0111307
familial febrile seizures 10 class of disease febrile seizures, familial human disease
DOID:0111304
familial febrile seizures 11 class of disease febrile seizures, familial human disease
DOID:0111308
familial febrile seizures 2 class of disease febrile seizures, familial human disease
DOID:0111310
familial febrile seizures 4 class of disease febrile seizures, familial human disease
DOID:0111305
familial febrile seizures 5 class of disease febrile seizures, familial human disease
DOID:0111306
familial febrile seizures 6 class of disease febrile seizures, familial human disease
DOID:0111309
familial febrile seizures 7 class of disease febrile seizures, familial human disease
DOID:0111311
familial febrile seizures 8 class of disease febrile seizures, familial human disease
DOID:0111298
familial febrile seizures 9 class of disease febrile seizures, familial human disease
DOID:0111303
familial glomangioma class of disease glomangioma rare circulatory system disease inherited renal tumor cardiovascular cancer inherited soft tissue tumor Human disease
DOID:7996
familial glucocorticoid deficiency class of disease adrenal gland disease
human disease
DOID:0080620
familial hemiplegic migraine 1 class of disease familial hemiplegic migraine
familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has material basis in heterozygous mutation in CACNA1A on 19p13
DOID:0111181
familial hemiplegic migraine 2 class of disease familial hemiplegic migraine
A familial hemiplegic migraine that has material basis in heterozygous mutation in ATP1A2 on 1q23.2.
DOID:0111182
familial hemiplegic migraine 3 class of disease familial hemiplegic migraine
A familial hemiplegic migraine that has material basis in heterozygous mutation in SCN1A on 2q24.3.
DOID:0111183
familial hemophagocytic lymphohistiocytosis 1 class of disease familial hemophagocytic lymphohistiocytosis genetic disease hemophagocytic lymphohistiocytosis autosomal recessive disease A hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22.
DOID:0110921
familial hepatic adenoma class of disease autosomal recessive disease hepatocellular adenoma
human disease
DOID:0111366
familial hyperinsulinemic hypoglycemia 1 class of disease hyperinsulinemic hypoglycemia genetic disease
hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the ABCC8 gene on chromosome 11p15
DOID:0070219
familial hyperinsulinemic hypoglycemia 2 class of disease hyperinsulinemic hypoglycemia genetic disease
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the KCNJ11 gene on chromosome 11p15.1.
DOID:0070218
familial hyperinsulinemic hypoglycemia 3 class of disease hyperinsulinemic hypoglycemia genetic disease
human disease
DOID:0070216
familial hyperinsulinemic hypoglycemia 4 class of disease hyperinsulinemic hypoglycemia genetic disease
hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has material basis in mutation in the HADH gene on chromosome 4q25
DOID:0070215
familial hyperinsulinemic hypoglycemia 5 class of disease hyperinsulinemic hypoglycemia genetic disease
human disease
DOID:0070220
familial hyperinsulinemic hypoglycemia 6 class of disease hyperinsulinemic hypoglycemia genetic disease
human disease
DOID:0070217
familial hyperinsulinemic hypoglycemia 7 class of disease hyperinsulinemic hypoglycemia genetic disease
A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has material basis in mutation in the SLC16A1 gene on chromosome 1p13.2.
DOID:0070214
familial hyperlipidemia class of disease lipid metabolism disorder hyperlipidemia
Human disease
DOID:1168
familial hypertrophic cardiomyopathy class of disease hypertrophic cardiomyopathy familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions
DOID:0080326
C14.280.238.100.500 C14.280.484.150.070.160.500 C16.320.160
familial hypertryptophanemia class of disease amino acid metabolic disorder autosomal recessive disease hypertryptophanemia
human disease
DOID:0111703
familial hypobetalipoproteinemia 1 class of disease hypobetalipoproteinemia
hypobetalipoproteinemia that has material basis in mutation in the APOB gene on chromosome 2p24
DOID:0111062
familial hypobetalipoproteinemia 2 class of disease hypobetalipoproteinemia
hypobetalipoproteinemia that has material basis in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31
DOID:0111061
familial hypocalciuric hypercalcemia 1 class of disease familial hypocalciuric hypercalcemia genetic disease
familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21
DOID:0060700
familial isolated trichomegaly class of disease Trichomegaly eyelid disease autosomal recessive disease
DOID:0111566
familial lipase maturation factor 1 deficiency class of disease familial chylomicronemia syndrome autosomal recessive disease human disease
DOID:0111422
familial lipoprotein lipase deficiency
class of disease hyperlipoproteinemia type I autosomal recessive disease familial chylomicronemia syndrome familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides
DOID:14118
familial melanoma class of disease melanoma
Human disease
DOID:6846
familial meningioma class of disease meningioma hereditary neoplastic syndromes
Human disease
DOID:4586
familial multiple nevi flammei class of disease capillary disease port-wine stain
human disease
DOID:0111529
familial nephrotic syndrome
class of disease nephrotic syndrome genetic disease monogenic disease Human disease
DOID:2590
familial partial lipodystrophy type 1 class of disease familial partial lipodystrophy
familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body
DOID:0070207
familial partial lipodystrophy type 2 class of disease familial partial lipodystrophy genetic disease autosomal dominant disease familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has material basis in mutation in the LMNA gene on chromosome 1q21
DOID:0070202
familial partial lipodystrophy type 3 class of disease familial partial lipodystrophy genetic disease autosomal dominant disease familial partial lipodystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the PPARG gene on chromosome 3p25
DOID:0070204
familial partial lipodystrophy type 6 class of disease familial partial lipodystrophy genetic disease autosomal recessive disease familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the LIPE gene on chromosome 19q13
DOID:0070206
familial progressive hyper- and hypopigmentation class of disease autosomal dominant disease skin disease familial progressive hyperpigmentation
human disease
DOID:0111373
familial renal oncocytoma class of disease renal oncocytoma inherited renal tumor Human disease
DOID:6244
familial renal papillary carcinoma class of disease hereditary renal cell carcinoma Human disease
DOID:6163
familial retinoblastoma class of disease retinoblastoma hereditary neoplastic syndromes
Human disease
DOID:4648
familial temporal lobe epilepsy 2 class of disease temporal lobe epilepsy genetic disease autosomal dominant disease A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.
DOID:0060755
familial temporal lobe epilepsy 3 class of disease temporal lobe epilepsy genetic disease autosomal dominant disease A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has material basis in variation in the chromosome region 4q13.2-q21.3.
DOID:0060750
familial temporal lobe epilepsy 4 class of disease temporal lobe epilepsy genetic disease autosomal dominant disease temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22
DOID:0060753
familial temporal lobe epilepsy 6 class of disease temporal lobe epilepsy genetic disease autosomal dominant disease temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26
DOID:0060749
familial temporal lobe epilepsy 7 class of disease temporal lobe epilepsy genetic disease familial partial epilepsy autosomal dominant disease temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22
DOID:0060751
familial temporal lobe epilepsy 8 class of disease temporal lobe epilepsy genetic disease autosomal dominant disease temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13
DOID:0060754
familial thyroid dyshormonogenesis class of disease congenital hypothyroidism
human disease
DOID:0112183
familiar fallopian tube carcinoma class of disease fallopian tube carcinoma inherited gynecological tumor Human disease
DOID:7266
familiar ovarian carcinoma class of disease surface epithelial-stromal tumor ovarian cancer carcinoma
Human disease
DOID:6901
farmer's lung
class of disease extrinsic allergic alveolitis disease
hypersensitivity pneumonitis
DOID:14453
C08.381.483.125.365 C08.674.055.365 C20.543.480.680.075.365 C24.080.365
fasciitis
class of disease connective tissue disease disease
Inflammation process in fascia
DOID:9598
C05.321
Fasciitis
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 class of disease autosomal recessive disease fatal infantile encephalocardiomyopathy fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in compound heterozygous mutation in the SCO2 gene on chromosome 22q13
DOID:0080357
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 class of disease autosomal recessive disease fatal infantile encephalocardiomyopathy fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in homozygous mutation in the COA5 gene on chromosome 2q11
DOID:0080359
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 class of disease fatal infantile encephalocardiomyopathy autosomal recessive disease fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42
DOID:0080360
fatal multiple mitochondrial dysfunctions syndrome class of disease mitochondrial disease
mitochondrial metabolism disease that is characterized by variants in genes involved in mitochondrial energy production, resulting in impairment of energy production at more than one stage of energy metabolism
DOID:0070330
fatty liver disease
class of disease lipid storage disease disease
lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis
DOID:9452
C06.552.241
Fatty liver
favism class of disease glucose-6-phosphate dehydrogenase deficiency
glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans
DOID:13628
C15.378.071.141.150.480.370 C15.378.071.141.370 C16.320.070.480.370 C25.723.415.341 C25.723.756.375
febrile neutrophilic dermatosis
class of disease reactive neutrophilic dermatose erythema rare rheumatologic disease other acquired skin disease skin disease allergy disease
skin disease
DOID:0080746
C17.800.229.800
Febrile neutrophilic dermatosis
febrile seizures, familial class of disease febrile seizure encephalopathy
human disease
DOID:0111297
feline panleukopenia class of disease parvovirus infectious disease cat disease cat disease
DOID:3799
C01.925.256.700.363 C22.180.460
female breast axillary tail cancer class of disease female breast cancer Human disease
DOID:1650
female breast cancer class of disease breast cancer
Human disease
DOID:0050671
female breast carcinoma class of disease breast carcinoma breast carcinoma that is manifested in the female breast
DOID:7843
female breast central part cancer class of disease female breast cancer human disease
DOID:13799
female breast lower-inner quadrant cancer class of disease female breast cancer Human disease
DOID:1649
female breast lower-outer quadrant cancer class of disease female breast cancer Human disease
DOID:13972
female breast upper-inner quadrant cancer class of disease female breast cancer Human disease
DOID:1647
female breast upper-outer quadrant cancer class of disease female breast cancer Human disease
DOID:9773
female infertility of uterine origin class of disease uterine disease female infertility
Human disease
DOID:13589
female reproductive endometrioid cancer class of disease female reproductive organ cancer Endometrioid tumor
human disease
DOID:3001
female reproductive organ benign neoplasm class of disease reproductive organ benign neoplasm female reproductive system disease
human disease
DOID:0060086
female reproductive organ cancer
class of disease female reproductive system disease reproductive organ cancer female reproductive system neoplasm human disease
DOID:120
Cancers of female genital organs
female reproductive system disease
class of disease reproductive system disease female urogenital disease reproductive system disease that impairs the ability to reproduce
DOID:229
C13.351.500
Diseases and disorders of the female reproductive system
female stress incontinence class of disease bladder disease stress incontinence
Human disease
DOID:724
female urethral cancer class of disease urethral cancer
Human disease
DOID:738
female-restricted syndromic X-linked intellectual disability 99 class of disease X-linked dominant disease X-linked intellectual disability
human disease
DOID:0112025
femoral cancer class of disease bone cancer neoplasm of femur bone cancer that is located in the femur
DOID:5546
femoral neuropathy class of disease mononeuropathy
mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve
DOID:4196
C10.668.829.500.200
femoral vein thrombophlebitis class of disease thrombophlebitis
Human disease
DOID:12282
fetal adenoma class of disease follicular adenoma Human disease
DOID:8102
fetal akinesia deformation sequence class of disease Pena-Shokeir syndrome monogenic disease syndrome
human disease
DOID:0111375
fetal akinesia deformation sequence syndrome 1 class of disease fetal akinesia deformation sequence autosomal recessive disease human disease
DOID:0111377
fetal akinesia deformation sequence syndrome 2 class of disease autosomal recessive disease fetal akinesia deformation sequence human disease
DOID:0111378
fetal akinesia deformation sequence syndrome 3 class of disease fetal akinesia deformation sequence autosomal recessive disease human disease
DOID:0111376
fetal akinesia deformation sequence syndrome 4 class of disease fetal akinesia deformation sequence autosomal recessive disease human disease
DOID:0111379
fetal alcohol effects class of disease fetal alcohol spectrum disorders
fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure
DOID:0050666
fetal alcohol spectrum disorders
class of disease specific developmental disorder congenital disorder alcohol and health disease
group of conditions that can occur in a person whose mother drank alcohol during pregnancy
DOID:0050696
C13.703.277.220 C16.300.070 C25.775.100.087.323
Fetal alcohol syndrome
fetal alcohol syndrome
class of disease fetal alcohol spectrum disorders disease
severe form of fetal alcohol spectrum disorder
DOID:0050665
Fetal alcohol syndrome
fetal erythroblastosis
class of disease neonatal alloimmune disease microcytic anemia hematological disease of fetus and newborn Acquired hemolytic anemia disease
Human disease
DOID:1098
C13.703.277.060 C15.378.295 C16.300.060 C16.614.304 C20.306
Hemolytic disease of the newborn
fetal nicotine spectrum disorder
class of disease specific developmental disorder health effects of tobacco congenital disorder drug-induced abnormality
specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy
DOID:0060606
Smoking and pregnancy
fetishism
class of disease paraphilia fetishism disease
sexual arousal a person receives from an object or situation
DOID:1235
F03.657.350
Sexual fetishism
fibrillary astrocytoma
class of disease brain tumor astrocytoma diffuse astrocytoma astrocytoma that is characterized as a low grade astrocytoma and has material basis in neoplastic astrocytes
DOID:6726
Fibrillary astrocytoma
fibroblastic liposarcoma class of disease liposarcoma
Human disease
DOID:5698
fibrochondrogenesis 1 class of disease fibrochondrogenesis autosomal recessive disease human disease
DOID:0080672
fibrochondrogenesis 2 class of disease autosomal dominant disease autosomal recessive disease fibrochondrogenesis
human disease
DOID:0080673
fibroepithelial basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4291
fibroepithelial polyp of the anus class of disease skin tag benign neoplasm of anus polyp of rectum anal disease Human disease
DOID:8170
Anal skin tags
fibroepithelial polyp of urethra class of disease skin tag urethral disease polyp urethral benign neoplasm Human disease
DOID:8108
fibrogenesis imperfecta ossium class of disease syndrome
A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
DOID:0080040
fibrolamellar hepatocellular carcinoma
class of disease hepatocellular carcinoma
A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
DOID:5015
fibroma
class of disease connective tissue benign neoplasm disease
human disease
DOID:0050871
C04.557.450.565.590.340
Fibromas
fibromyalgia
class of disease symptom or sign
myositis chronic pain disease
chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness
DOID:631
C05.651.324 C05.799.321 C10.668.491.425
Fibromyalgia
fibroosseous pseudotumor of digits class of disease bone benign neoplasm myositis ossificans
Human disease
DOID:8153
fibrosarcoma
class of disease connective tissue neoplasm fibroblastic tumour sarcoma disease
connective tissue cancer that has material basis in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern
DOID:3355
C04.557.450.565.590.350 C04.557.450.795.350
Fibrosarcoma
fibrosarcoma of bone class of disease osteosarcoma fibrosarcoma bone sarcoma
Human disease
DOID:3354
fibrosarcomatous osteosarcoma class of disease conventional central osteosarcoma Human disease
DOID:7603
fibrosclerosis of breast
class of disease non-proliferative fibrocystic change of the breast benign mammary dysplasia Human disease
DOID:10353
fibrous dysplasia of bone
class of disease bone remodeling disease disease
bone remodeling disease that results in the destruction of normal bone and replacing it with fibrous bone tissue
DOID:0080031
C05.116.099.708.375
Fibrous dysplasia
fibrous histiocytoma class of disease histiocytoma
Human disease
DOID:4415
C04.557.450.565.590.425.350
fibrous meningioma class of disease meningioma
Human disease
DOID:7211
fibrous synovial sarcoma class of disease synovial sarcoma
Human disease
DOID:5484
fibular collateral ligament bursitis class of disease knee disorder enthesopathy
Human disease
DOID:9358
filamentary keratitis class of disease keratitis
Human disease
DOID:4664
filarial elephantiasis
class of disease filariasis skin disease neglected tropical disease disease
human disease caused by parasitic worms
DOID:12211
C15.604.496.490 C01.610.335.508.700.750.361.350 C01.920.750
Lymphatic filariasis
finger agnosia
class of disease agnosia autotopagnosia
agnosia that is a loss of the ability to distinguish the fingers on the hand
DOID:0060141
fish allergy
class of disease food allergy seafood allergy
food allergy triggered by fish
DOID:0060513
fissured tongue
class of disease tongue disease disease
benign condition characterized by deep grooves (fissures) in the dorsum of the tongue
DOID:11514
C07.465.910.708
Fissured tongue
flat ductal epithelial atypia class of disease breast intraductal proliferative lesion Human disease
DOID:6841
flat retinoschisis class of disease retinoschisis
Human disease
DOID:8464
flavivirus infectious disease class of disease Flaviviridae infectious disease human disease
DOID:993
C01.925.782.350.250
Flavivirus infections
focal chorioretinitis class of disease chorioretinitis
Human disease
DOID:1979
focal dystonia
class of disease dystonia movement disorders disease
dystonia that is localized to a specific part of the body
DOID:0050836
focal embolic glomerulonephritis class of disease glomerulonephritis
Human disease
DOID:4779
focal epilepsy
class of disease seizure epilepsy disease
epilepsy syndrome characterised by seizures preceded by isolated disturbances of a cerebral function
DOID:2234
C10.228.140.490.360
focal hand dystonia
class of disease focal dystonia occupational disease
focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions
DOID:0050841
focal labyrinthitis class of disease labyrinthitis
Human disease
DOID:13867
focal nonepidermolytic palmoplantar keratoderma class of disease nonepidermolytic palmoplantar keratoderma human disease
DOID:0111708
focal nonepidermolytic palmoplantar keratoderma 1 class of disease focal nonepidermolytic palmoplantar keratoderma autosomal dominant disease human disease
DOID:0111709
focal nonepidermolytic palmoplantar keratoderma 2 class of disease autosomal dominant disease focal nonepidermolytic palmoplantar keratoderma human disease
DOID:0111711
focal or diffuse nonepidermolytic palmoplantar keratoderma class of disease autosomal dominant disease nonepidermolytic palmoplantar keratoderma human disease
DOID:0111710
focal segmental glomerulosclerosis 1 class of disease focal segmental glomerulosclerosis genetic disease
A focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2.
DOID:0111128
folic acid deficiency anemia class of disease deficiency anemia megaloblastic anemia nutritional deficiency disease Human disease
DOID:14026
follicular adenoma class of disease thyroid adenoma
Human disease
DOID:6204
follicular basal cell carcinoma class of disease basal-cell carcinoma
human disease
DOID:4295
follicular dendritic cell sarcoma
class of disease dendritic cell sarcoma Epstein-Barr virus-associated mesenchymal tumor dendritic cell sarcoma cancer that effects the follicular dendritic cells
DOID:6262
C04.557.227.190 C15.604.250.390.190
Follicular dendritic cell sarcoma
follicular mucinosis
class of disease mucinosis alopecia sebaceous gland anomaly baldness Cutaneous focal mucinosis sebaceous gland disease Human disease
DOID:9905
C17.300.550.550 C17.800.329.937.122.550 C17.800.794.550
follicular thyroid cancer
class of disease thyroid carcinoma adenocarcinoma
thyroid carcinoma that has material basis in follicular cells
DOID:3962
C04.557.470.200.025.060
Follicular thyroid carcinoma
folliculitis
class of disease dermatitis hair diseases disease
Human disease
DOID:4409
C17.800.329.500
Folliculitis
food allergy
class of disease food hypersensitivity gastrointestinal allergy disease
hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system
DOID:3044
C20.543.480.370
Food allergy
form agnosia class of disease agnosia apperceptive agnosia visual agnosia
agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details
DOID:0060142
formaldehyde allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger formaldehyde
DOID:0040074
frontal convexity meningioma class of disease cerebral convexity meningioma Human disease
DOID:8000
frontal lobe epilepsy
class of disease extratemporal epilepsy focal epilepsy
common form of epilepsy that may appear to be related to a psychiatric problem or a sleep disorder
DOID:3331
C10.228.140.490.360.270 C10.228.140.490.493.188
frontal lobe neoplasm class of disease cerebrum cancer frontal lobe disorder
Human disease
DOID:12016
frontal sinus cancer class of disease paranasal sinus cancer frontal sinus neoplasm Human disease
DOID:1360
frontal sinus neoplasm class of disease paranasal sinus neoplasm Human disease
DOID:1361
frontal sinus squamous cell carcinoma class of disease frontal sinus cancer squamous cell carcinoma
Human disease
DOID:2441
frontal sinusitis class of disease sinusitis nose disease sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead
DOID:10791
C08.460.692.752.387 C08.730.749.387 C09.603.692.752.387 C01.748.749.387
frontometaphyseal dysplasia 1 class of disease X-linked recessive disease frontometaphyseal dysplasia human disease
DOID:0111786
frozen shoulder
class of disease connective tissue disease periarthritis humero-scapularis capsulitis disease
painful human disease of uncertain origin affecting the shoulder capsule
DOID:14188
Adhesive capsulitis of the shoulder
fruit allergy
class of disease food allergy vegetable allergy type of food allergy caused by fruit
DOID:0060503
functional diarrhea class of disease colonic disease diarrhea functional colonic disease Human disease
DOID:11371
functional gastric disease class of disease stomach disease functional gastrointestinal disorder
Human disease
DOID:1159
fundus dystrophy class of disease eye disease retinal degeneration genetic vitreous-retinal disease human disease
DOID:8501
C11.768.585.658
fungal esophagitis class of disease esophagitis fungal infectious disease
Human disease
DOID:13147
fungal folliculitis
class of disease tinea corporis
fungal infection
DOID:13368
Fungal folliculitis
fungal gastritis class of disease gastritis fungal infectious disease chronic gastritis
gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients
DOID:4034
fungal infectious disease
class of disease infectious disease bacterial infection and mycosis disease
disease caused by fungi to animals or humans
DOID:1564
C01.150.703
Diseases and disorders due to fungi
funisitis
class of disease connective tissue disease chorioamnionitis
connective tissue disease that is an inflammation of the connective tissue of the umbilical cord
DOID:0050698
gait apraxia class of disease apraxia
Human disease
DOID:4260
C10.597.404.400 C10.597.606.881.350.600 C23.888.592.413.400 C23.888.592.604.882.350.600 F01.700.875.350.600
galactose epimerase deficiency
class of disease galactosemia autosomal recessive disease human disease
DOID:0111458
galactose-1-phosphate uridylyltransferase deficiency
class of disease galactosemia autosomal recessive disease human disease
DOID:0111459
gall bladder carcinoma in situ class of disease in situ carcinoma gallbladder disease
Human disease
DOID:0050612
gallamine allergy class of disease drug allergy
drug allergy that has allergic trigger gallamine
DOID:0040078
gallbladder adenocarcinoma class of disease gallbladder carcinoma adenocarcinoma adenocarcinoma of liver and intrahepatic biliary tract gallbladder carcinoma that derives from epithelial cells of glandular origin
DOID:3500
Gallbladder adenocarcinoma
gallbladder adenoma class of disease biliary tract neoplasm gastrointestinal adenoma gallbladder polyp benign neoplasms by histologic type gallbladder benign neoplasm adenoma
biliary tract neoplasm that has material basis in epithelial tissue of glandular origin located in the gallbladder
DOID:0050893
gallbladder angiosarcoma class of disease angiosarcoma gallbladder sarcoma gallbladder cancer
angiosarcoma and gallbladder sarcoma that is located in the gallbladder
DOID:4513
gallbladder benign neoplasm class of disease gallbladder neoplasm biliary tract neoplasm human disease
DOID:0080640
gallbladder cancer
class of disease biliary tract cancer gallbladder neoplasm gallbladder disease disease
biliary tract cancer that is located in the gallbladder
DOID:3121
Gallbladder cancer
gallbladder carcinoma class of disease gallbladder cancer carcinoma
gallbladder cancer that has material basis in abnormally proliferating cells derives from epithelial cells
DOID:4948
gallbladder disease
class of disease gastrointestinal system disease biliary disease disease
gastrointestinal system disease that is located in the gallbladder
DOID:0060262
C06.130.564
Diseases and disorders of gallbladder
gallbladder leiomyoma class of disease leiomyoma gallbladder disease gastrointestinal system benign neoplasm benign neoplasm of gallbladder human disease
DOID:5140
gallbladder leiomyosarcoma class of disease gallbladder sarcoma leiomyosarcoma liver leiomyosarcoma gallbladder cancer
gallbladder sarcoma that is located in the gallbladder
DOID:5275
gallbladder lipoma class of disease biliary tract neoplasm gallbladder disease lipoma liver lipoma gallbladder benign neoplasm human disease
DOID:10201
gallbladder lymphoma class of disease gallbladder cancer lymphoma liver lymphoma Human disease
DOID:8135
gallbladder melanoma class of disease gallbladder cancer melanoma
Human disease
DOID:8167
gallbladder mucinous carcinoma class of disease gallbladder adenocarcinoma gallbladder carcinoma Human disease
DOID:6998
gallbladder papillary carcinoma class of disease gallbladder adenocarcinoma carcinoma gallbladder cancer
Human disease
DOID:7221
gallbladder papillomatosis class of disease biliary tract neoplasm papilloma
Human disease
DOID:3120
gallbladder pleomorphic giant cell adenocarcinoma class of disease gallbladder adenocarcinoma Human disease
DOID:7222
gallbladder rhabdomyosarcoma class of disease gallbladder sarcoma rhabdomyosarcoma liver rhabdomyosarcoma gallbladder cancer
gallbladder sarcoma that is located in the gallbladder
DOID:4057
gallbladder sarcoma class of disease gallbladder cancer sarcoma
sarcoma that is located in the gallbladder
DOID:4058
gallbladder signet ring cell adenocarcinoma class of disease gallbladder adenocarcinoma signet ring cell adenocarcinoma
Human disease
DOID:3499
gallbladder small cell carcinoma class of disease gallbladder carcinoma gallbladder neuroendocrine neoplasm liver neuroendocrine carcinoma small cell carcinoma
Human disease
DOID:7133
gallbladder squamous cell carcinoma class of disease gallbladder carcinoma squamous cell carcinoma squamous cell carcinoma of liver and intrahepatic biliary tract Human disease
DOID:5535
gamma heavy chain disease class of disease heavy chain disease
heavy chain disease that results from an overproduction of gamma antibody (IgG)
DOID:0060127
gamma-amino butyric acid metabolism disorder class of disease amino acid metabolic disorder amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway
DOID:0060176
gangliocytoma class of disease central nervous system organ benign neoplasm nervous system benign neoplasm Human disease
DOID:2426
ganglioglioma
class of disease benign neoplasms by histologic type central nervous system organ benign neoplasm cell type benign neoplasm that has material basis in glial-type cells
DOID:5078
C04.557.465.625.600.380.350 C04.557.470.670.380.350 C04.557.580.625.600.380.350
Ganglioglioma
ganglioneuroblastoma
class of disease neuroblastoma neuroblastic tumor Human disease
DOID:4163
C04.557.465.625.600.590.650.550.300 C04.557.470.670.590.650.550.300 C04.557.580.625.600.590.650.550.300
Ganglioneuroblastoma
ganglioneuroma
class of disease autonomic nervous system benign neoplasm rare and benign tumor of the autonomic nerve fibers arising from neural crest sympathogonia
DOID:4817
C04.557.465.625.600.355 C04.557.470.670.355 C04.557.580.625.600.355
Ganglioneuroma
gangliosidosis
class of disease sphingolipidosis rare genetic epilepsy rare dyslipidemia sphingolipidosis with epilepsy autosomal recessive disease disease
Human disease
DOID:2368
C10.228.140.163.100.435.825.300 C16.320.565.189.435.825.300 C16.320.565.398.641.803.350 C16.320.565.595.554.825.300 C18.452.132.100.435.825.300 C18.452.584.563.641.803.350 C18.452.648.189.435.825.300 C18.452.648.398.641.803.350 C18.452.648.595.554.825.300
gangliosidosis GM3 class of disease gangliosidosis GM1
gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and has material basis in mutation in the gene encoding beta-galactosidase-1
DOID:0080489
gastric adenocarcinoma class of disease stomach carcinoma adenocarcinoma
stomach carcinoma that derives from epithelial cells of glandular origin
DOID:3717
Adenocarcinomas of stomach
gastric adenosquamous carcinoma class of disease adenosquamous carcinoma gastric squamous cell carcinoma squamous cell carcinoma stomach carcinoma Human disease
DOID:5635
gastric antral vascular ectasia
class of disease capillary disease ectasia vascular ectasia Human disease
DOID:2493
C06.405.748.280 C14.907.075.280
Gastric antral vascular ectasia
gastric body carcinoma class of disease stomach carcinoma Human disease
DOID:6705
gastric cardia adenocarcinoma class of disease gastric adenocarcinoma gastric cardia carcinoma cardia cancer Human disease
DOID:6271
gastric cardia carcinoma class of disease stomach carcinoma cardia cancer Human disease
DOID:6270
gastric diffuse adenocarcinoma class of disease gastric adenocarcinoma diffuse type adenocarcinoma Human disease
DOID:6217
gastric dilatation class of disease stomach disease
Human disease
DOID:3229
C06.405.748.300
gastric fundus cancer class of disease stomach cancer
human disease
DOID:10538
gastric fundus carcinoma class of disease gastric fundus cancer carcinoma
Human disease
DOID:6700
gastric gastrinoma class of disease stomach cancer gastrinoma gastric neuroendocrine tumor, well differentiated, low or intermediate grade Human disease
DOID:5579
gastric hemangioma class of disease benign neoplasm of stomach gastrointestinal system benign neoplasm hemangioma of intra-abdominal structure hemangioma stomach disease
human disease
DOID:275
gastric leiomyoma class of disease gastrointestinal system benign neoplasm leiomyoma benign neoplasm of stomach Human disease
DOID:10087
gastric leiomyosarcoma class of disease stomach cancer gastrointestinal system disease gastrointestinal system cancer
Human disease
DOID:5280
gastric liposarcoma class of disease stomach cancer gastrointestinal system disease gastrointestinal system cancer
Human disease
DOID:5700
gastric lymphoma
class of disease gastrointestinal lymphoma stomach cancer
Human disease
DOID:10540
gastric mucosal hypertrophy
class of disease gastritis rare gastroesophageal disease genetic disease rare genetic gastroenterological disease chronic gastritis
human disease
DOID:8757
C06.405.205.697.410 C06.405.748.398.410
Ménétrier's disease
gastric neuroendocrine neoplasm class of disease gastrointestinal neuroendocrine benign tumor stomach cancer
Human disease
DOID:4715
gastric outlet obstruction
class of disease stomach disease
Human disease
DOID:3122
C06.405.748.340
Gastric outlet obstruction
gastric papillary adenocarcinoma class of disease gastric adenocarcinoma Human disease
DOID:5593
gastric pylorus carcinoma class of disease stomach carcinoma pylorus cancer Human disease
DOID:6703
gastric signet ring cell adenocarcinoma class of disease gastric diffuse adenocarcinoma signet ring cell adenocarcinoma
Human disease
DOID:8025
gastric small cell carcinoma class of disease stomach carcinoma gastric neuroendocrine neoplasm small cell carcinoma
Human disease
DOID:6552
gastric squamous cell carcinoma class of disease stomach carcinoma squamous cell carcinoma
Human disease
DOID:5516
gastric teratoma class of disease stomach cancer gastrointestinal system disease gastrointestinal system cancer
human disease
DOID:5561
gastric tubular adenocarcinoma class of disease gastric adenocarcinoma Human disease
DOID:6595
gastric ulcer class of disease peptic ulcer disease
An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.
DOID:10808
C06.405.469.275.800.849 C06.405.748.586.849
Gastric ulcers
gastrin secretion abnormality class of disease endocrine pancreas disease Human disease
DOID:13656
gastrinoma
class of disease neuroendocrine tumor disease
neuroendocrine tumor that results in an overproduction of gastric acid
DOID:5577
C04.557.470.200.025.290.500 C04.588.274.761.500.124 C04.588.322.475.500.124 C06.301.761.500.124 C06.689.667.500.124 C19.344.421.500.124
Gastrinoma
gastritis
class of disease stomach disease disease
stomach disease that is an inflammation of the lining of the stomach
DOID:4029
C06.405.205.697 C06.405.748.398
Gastritis
gastroduodenal Crohn's disease class of disease Crohn's disease
inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite
DOID:0060191
gastroduodenitis class of disease peptic ulcer disease hemorrhagic duodenitis gastritis disease
Human disease
DOID:8644
gastroenteritis
class of disease symptom or sign
gastrointestinal system disease digestive sign disease
medical condition characterized by inflammation of the stomach and/or small intestine
DOID:2326
C06.405.205
Gastroenteritis
gastroesophageal adenocarcinoma class of disease adenocarcinoma gastroesophageal cancer gastroesophageal cancer that has material basis in abnormally proliferating cells, derives from epithelial cells, which originate in glandular tissue
DOID:0080375
gastroesophageal cancer class of disease gastrointestinal system cancer
gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach
DOID:0080374
gastroesophageal junction adenocarcinoma class of disease gastrointestinal carcinoma gastroesophageal adenocarcinoma Human disease
DOID:4944
gastroesophageal reflux disease
class of disease genetic disease stomach disease esophagitis gastrointestinal system disease esophageal disease
chronic disease caused by stomach acid coming up from the stomach into the esophagus
DOID:8534
C06.405.117.119.500.484
Gastroesophageal reflux disease
gastrointestinal adenoma class of disease gastrointestinal system cancer adenoma gastrointestinal system benign neoplasm Human disease
DOID:4147
gastrointestinal allergy class of disease allergy
hypersensitivity reaction type I disease located in the gastrointestinal tract
DOID:0060502
gastrointestinal anthrax class of disease anthrax gastrointestinal system disease
human disease
DOID:13386
gastrointestinal carcinoma class of disease gastrointestinal system cancer carcinoma
gastrointestinal system cancer that has material basis in epithelial cells
DOID:0050922
gastrointestinal lymphoma class of disease gastrointestinal system cancer gastrointestinal system disease non-Hodgkin lymphoma lymphoma
Human disease
DOID:903
gastrointestinal neuroendocrine benign tumor class of disease gastrointestinal system benign neoplasm gastrointestinal system disease gastroenteropancreatic neuroendocrine neoplasm Human disease
DOID:4148
gastrointestinal neuroendocrine tumor class of disease gastrointestinal neoplasm neuroendocrine tumor gastrointestinal system cancer
gastrointestinal system cancer that has material basis in neuroendocrine cells
DOID:0050626
gastrointestinal stromal tumor
class of disease Stromal tumor rare genetic intestinal disease inherited digestive tract tumor mesenchymal tumor of small intestine gastrointestinal system cancer
human disease
DOID:9253
C04.557.450.565.370 C06.301.371.308 C06.405.249.308
Gastrointestinal stromal tumors
gastrointestinal system benign neoplasm class of disease organ system benign neoplasm gastrointestinal neoplasm gastrointestinal system disease
organ system benign neoplasm located in gastrointestinal tract organs
DOID:0050624
Benign neoplasms of gastrointestinal tract
gastrointestinal system cancer
class of disease digestive system cancer gastrointestinal neoplasm organ system cancer gastrointestinal system disease
organ system cancer located in gastrointestinal tract that is manifested in organs of the gastrointestinal system
DOID:3119
Gastrointestinal cancers
gastrointestinal system disease
class of disease disease of anatomical entity disease
disease involving the gastrointestinal tract
DOID:77
C06
Diseases and disorders of the digestive system
gastrointestinal tularemia class of disease tularemia gastrointestinal system disease
tularemia that results in formation of ulcerative lesions located in gastrointestinal tract
DOID:14239
gastrojejunal ulcer class of disease peptic ulcer disease
Human disease
DOID:10927
gastroparesis
class of disease functional gastric disease disease
Human disease
DOID:11914
C06.405.748.543 C23.888.592.636.263
Gastroparesis
geleophysic dysplasia 1 class of disease geleophysic dysplasia autosomal recessive disease human disease
DOID:0111725
geleophysic dysplasia 3 class of disease geleophysic dysplasia autosomal dominant disease human disease
DOID:0111727
gemistocytic astrocytoma
class of disease astrocytoma
human disease
DOID:7005
gender dysphoria
class of disease mental disorder dysphoria disease
mental distress resulting from mismatch between gender identity and biological gender assigned at birth
DOID:1234
F03.835.550
gene duplication disease class of disease monogenic disease human disease
DOID:0080712
generalized anxiety disorder
class of disease anxiety disorder disease
anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation
DOID:14320
Generalized anxiety disorder
generalized atherosclerosis class of disease atherosclerosis
Human disease
DOID:2347
generalized dystonia class of disease dystonia
human disease
DOID:0050835
C10.228.140.079.357 C10.228.662.300.200 C10.574.500.393 C16.320.400.330
generalized epidermolysis bullosa simplex
class of disease epidermolysis bullosa simplex basal epidermolysis bullosa simplex autosomal dominant disease epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy
DOID:0080511
generalized epilepsy
class of disease epilepsy seizure
epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from independent foci or epileptic circuits that involve the whole brain
DOID:1827
C10.228.140.490.375
generalized epilepsy with febrile seizures plus 1 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111302
generalized epilepsy with febrile seizures plus 10 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111296
generalized epilepsy with febrile seizures plus 2 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111294
generalized epilepsy with febrile seizures plus 4 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111293
generalized epilepsy with febrile seizures plus 6 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111300
generalized epilepsy with febrile seizures plus 7 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111295
generalized epilepsy with febrile seizures plus 8 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111299
generalized epilepsy with febrile seizures plus 9 class of disease generalized epilepsy with febrile seizures plus
human disease
DOID:0111301
genetic disease
class of disease hereditary disorder disease
health problem caused by one or more abnormalities in the genome
DOID:630 DOID:0050325
C16.320
Genetic diseases and disorders
geniculate ganglionitis
class of disease facial nerve disease Human disease
DOID:14075
geniculate herpes zoster
class of disease herpes zoster poliomyelitis facial nerve disease disorder that is caused by the reactivation of varicella zoster virus in the geniculate ganglion, a nerve cell bundle of the facial nerve
DOID:9210
C01.925.256.466.930.750.733 C07.465.299.750 C09.218.513 C10.292.319.750
Ramsay Hunt syndrome type II
genital leiomyoma
class of disease reproductive organ benign neoplasm leiomyoma cutis human disease
DOID:5147
geographic tongue
class of disease symptom or sign
inflammation tongue disease smooth tongue disease
atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface
DOID:1455
C07.465.910.363.447
Geographic tongue
germ cell and embryonal cancer class of disease germ cell cancer sarcoma
germ cell cancer that is derives from a mixture of germs cells and embryonal cells
DOID:3095
germ cell benign neoplasm class of disease benign neoplasms by histologic type germ cell tumor
human disease
DOID:0080601
germ cell cancer class of disease cell type cancer germ cell tumor
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells.
DOID:2994
Germ cell cancers
germinoma
class of disease germ cell cancer disease
germ cell cancer that lacks histologic differentiation, usually a brain tumor
DOID:3304
C04.557.465.330
Germinoma
gestational choriocarcinoma
class of disease choriocarcinoma extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell cancer gestational trophoblastic disease
Human disease
DOID:2025
gestational diabetes
class of disease diabetes complication of pregnancy, childbirth and the puerperium diabetes mellitus and pregnancy disease
condition in which a woman without diabetes develops high blood sugar levels during pregnancy
DOID:11714 DOID:1550
C12.050.703.170 C18.452.394.750.448 C19.246.200
Gestational diabetes
gestational ovarian choriocarcinoma class of disease choriocarcinoma of ovary malignant non-dysgerminomatous germ cell tumor of ovary ovarian cancer gestational choriocarcinoma
Human disease
DOID:7591
gestational uterine corpus choriocarcinoma class of disease gestational choriocarcinoma uterine corpus choriocarcinoma Human disease
DOID:8187
giant axonal neuropathy
class of disease axonal neuropathy genetic disease autosomal recessive disease human disease
DOID:0090068
C10.500.300.490 C10.574.500.495.490 C10.668.829.325 C10.668.829.800.300.490 C16.131.666.300.490 C16.320.400.375.490
giant cell glioblastoma class of disease glioblastoma
glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells
DOID:3074
giant cell reparative granuloma class of disease giant-cell tumor of bone
Human disease
DOID:1866
C05.500.368 C07.320.391 C07.465.714.258.557 C23.550.382.468
giant cell tumor class of disease connective tissue neoplasm bone benign neoplasm Human disease
DOID:200
C04.557.450.565.380
Giant cell tumors
giant hemangioma class of disease cavernous hemangioma
Human disease
DOID:5774
giant papillary conjunctivitis class of disease blepharoconjunctivitis papillary conjunctivitis allergic conjunctivitis
Human disease
DOID:2457
giant-cell carcinoma of the lung
class of disease large-cell lung carcinoma Sarcomatoid carcinoma of the lung malignant giant cell tumor lung carcinoma that is located in large undifferentiated cells
DOID:5583
C04.557.470.200.220
giant-cell tumor of bone
class of disease bone neoplasm giant cell tumor disease
giant cell tumor and bone cancer and bone tissue neoplasm that results in the presence of multinucleated giant cells (osteoclast-like cell)
DOID:4305
C04.557.450.565.380.380 C04.557.450.565.575.420
Giant-cell tumor of bone
gingival disease
class of disease periodontal disease human disease
DOID:1483
C07.465.714.258
gingival fibromatosis 5 class of disease gingival fibromatosis autosomal dominant disease human disease
DOID:0080280
gingival hypertrophy class of disease gingival overgrowth
Human disease
DOID:5338
C07.465.714.258.428.260
gingival overgrowth
class of disease gingival disease
Human disease
DOID:3086
C07.465.714.258.428
Gingival enlargement
gingival recession
class of disease gingival disease periodontal atrophy human disease
DOID:1134
C07.465.714.258.447 C07.465.714.354.625
Gingival recession
gingivitis
class of disease symptom or sign
symptom gingival disease periodontitis disease
inflammation of the gums
DOID:3087
C07.465.714.258.480
Gingivitis
glandular cystitis
class of disease chronic cystitis A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.
DOID:2392
Cystitis glandularis
glandular pattern ovarian yolk sac tumor class of disease ovarian endodermal sinus tumor Human disease
DOID:6511
glandular tularemia class of disease tularemia
tularemia that results in swelling of regional lymph glands
DOID:0050382
glandular-alveolar pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:7930
glans penis cancer class of disease penile cancer
Human disease
DOID:11839
glassy cell variant cervical adenosquamous carcinoma class of disease cervical adenosquamous carcinoma cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm
DOID:8361
glaucoma
class of disease eye disease disease
eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function
DOID:1686
C11.525.381
Glaucoma
glaucomatous atrophy of optic disc class of disease optic atrophy eye degenerative disease human disease
DOID:10337
glioblastoma
class of disease astrocytoma disease
human disease
DOID:3068
C04.557.465.625.600.380.080.335 C04.557.470.670.380.080.335 C04.557.580.625.600.380.080.335
Glioblastoma
glioblastoma classical subtype class of disease glioblastoma
glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations
DOID:0050803
glioblastoma mesenchymal subtype class of disease glioblastoma
glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene
DOID:0050805
glioblastoma neural subtype class of disease glioblastoma
glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons
DOID:0050806
glioblastoma proneural subtype class of disease glioblastoma
glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification
DOID:0050804
glioma
class of disease cell type cancer brain tumor spinal disease bone cancer brain cancer disease
type of tumor that starts in the brain or spine
DOID:3070
C04.557.465.625.600.380 C04.557.470.670.380 C04.557.580.625.600.380
Gliomas
gliomatosis cerebri
class of disease brain cancer rare primary brain tumor
DOID:6128
Gliomatosis cerebri
gliosarcoma
class of disease glioblastoma
Human disease
DOID:3071
C04.557.465.625.600.380.400 C04.557.470.670.380.400 C04.557.580.625.600.380.400
Gliosarcoma
globe disease class of disease eye disease
Human disease
DOID:1242
globoszoospermia
class of disease Teratospermia male infertility autosomal recessive disease spermatogenic failure male infertility characterized by round-headed spermatozoa lacking an acrosome
DOID:0111156
Globoszoospermia
glomangioma class of disease benign perivascular tumor glomus tumor
Human disease
DOID:2436
glomangiomatosis class of disease benign perivascular tumor glomus tumor
Human disease
DOID:6906
glomangiomyoma class of disease benign perivascular tumor glomus tumor
human disease
DOID:8020
glomangiosarcoma
class of disease glomus tumor
Human disease
DOID:5233
glomeruloid hemangioma
class of disease hemangioma
Human disease
DOID:486
glomerulonephritis
class of disease symptom or sign
nephritis glomerulopathy disease
nephritis that causes inflammation of the glomeruli located in kidney
DOID:2921
C12.777.419.570.363 C13.351.968.419.570.363
Glomerulonephritis
glomerulosclerosis
class of disease glomerulonephritis
glomerulonephritis that is characterized by hardening of the glomerulus in the kidney
DOID:0050851
Glomerulosclerosis
glossitis
class of disease symptom or sign
tongue disease inflammatory disease disease
soreness of the tongue, or more usually inflammation with depapillation of the dorsal surface of the tongue
DOID:1456
C07.465.910.363
Glossitis
glossopharyngeal motor neuropathy class of disease motor neuritis glossopharyngeal nerve disease Human disease
DOID:7558
glossopharyngeal nerve disease class of disease cranial nerve disease
Human disease
DOID:3418
C10.292.450
glossopharyngeal nerve paralysis class of disease glossopharyngeal nerve disease cranial nerve palsy Human disease
DOID:3816
glossopharyngeal neuralgia class of disease glossopharyngeal nerve disease neuralgia cranial neuralgia Human disease
DOID:14423
glottis cancer class of disease laryngeal cancer glottis neoplasm Human disease
DOID:2595
glottis carcinoma class of disease glottis cancer carcinoma
Human disease
DOID:2599
glottis neoplasm class of disease laryngeal neoplasm Human disease
DOID:2597
glucocorticoid deficiency 1 class of disease familial glucocorticoid deficiency autosomal recessive disease human disease
DOID:0080621
glucocorticoid-induced osteoporosis
class of disease corticosteroid-induced osteoporosis osteoporosis
Human disease
DOID:0060343
glucose intolerance
class of disease hyperglycemia disease
pre-diabetic state of hyperglycemia that is associated with insulin resistance and increased risk of cardiovascular pathology. IGT may precede type 2 diabetes mellitus by many years
DOID:10603
C18.452.394.952.500
glucose metabolism disease class of disease carbohydrate metabolism disease metabolic disease
metabolic disorder characterized by abnormal blood glucose levels
DOID:4194
C18.452.394
Glucose metabolism disorders
glucose-6-phosphate dehydrogenase deficiency
class of disease carbohydrate metabolic disorder disease
carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)
DOID:2862
C15.378.071.141.150.480 C16.320.070.480 C16.320.565.202.402 C18.452.648.202.402
Glucose-6-phosphate dehydrogenase deficiency
glutathionuria
class of disease Congenital disorders of amino acid metabolism inborn disorder of the gamma-glutamyl cycle amino acid metabolic disorder autosomal recessive disease Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine
DOID:0111257
gluten allergy class of disease food allergy gluten-related disorder
allergy involving gluten
DOID:0060057
glycogen metabolism disorder class of disease carbohydrate metabolic disorder
carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen
DOID:0050728
glycogen storage disease
class of disease glycogen metabolism disorder overload disease carbohydrate metabolic disorder disease
glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types
DOID:2747
C16.320.565.202.449 C18.452.648.202.449
Glycogen storage disease
glycogen storage disease IX
class of disease glycogen storage disease
glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity
DOID:0050594
Glycogen storage disease type IX
glycogen-rich clear cell breast carcinoma class of disease breast adenocarcinoma clear cell carcinoma
Human disease
DOID:5310
goat milk allergy class of disease milk allergy
milk allergy triggered by Capra hircus milk
DOID:0060522
goiter
class of disease thyroid gland disease disease
swelling of the thyroid gland
DOID:12176
C19.874.283
Goiters
gonadal disease class of disease endocrine system disease
endocrine system disease that is located in the gonads
DOID:2277
C19.391
Diseases and disorders of gonads
gonadal dysgenesis
class of disease hypogonadism sex differentiation disease disease
congenital disorder of the reproductive system
DOID:14447
C12.706.316.309 C13.351.875.253.309 C16.131.939.316.309 C19.391.119.309
gonadoblastoma
class of disease benign neoplasms by histologic type cell type benign neoplasm that is composed of a mixture of gonadal elements
DOID:3301
C04.557.465.420 C04.557.475.395 C12.706.316.096.687.500 C12.706.316.309.388.500 C13.351.875.253.096.687.500 C13.351.875.253.309.388.500 C16.131.939.316.096.687.500 C16.131.939.316.309.388.500 C19.391.119.096.687.500 C19.391.119.309.388.500
Gonadoblastoma
gonococcal bursitis class of disease bursitis gonococcal infectious diseases Human disease
DOID:13453
gonococcal seminal vesiculitis class of disease vesiculitis gonorrhea
human disease
DOID:10400
gonococcal spondylitis class of disease spondylitis gonorrhea
Human disease
DOID:13127
gonococcal synovitis class of disease synovitis gonococcal infectious diseases Human disease
DOID:13454
gout
class of disease symptom or sign
arthritis genetic disease crystal arthropathy metabolic disease disease
medical condition that results in recurrent pain and swelling of joints
DOID:13189
C05.550.114.423 C05.550.354.500 C05.799.414 C16.320.565.798.368 C18.452.648.798.368
Gout
granular cell carcinoma class of disease carcinoma
carcinoma that derives from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm
DOID:4903
granular cell leiomyosarcoma class of disease leiomyosarcoma rare nervous system tumor malignant granular cell myoblastoma Human disease
DOID:5258
granular cell tumor
class of disease skin benign neoplasm Human disease
DOID:2411
C04.557.450.590.350
Granular cell tumor
granuloma annulare
class of disease dermatitis necrobiotic disorders Human disease
DOID:3777
C17.300.200.495.380 C17.800.550.380 C23.550.382.375
Granuloma annulare
granulomatous amebic encephalitis
class of disease Balamuthia infection acanthamoebiasis primary amebic meningoencephalitis encephalopathy
Human disease
DOID:0050246
Granulomatous amoebic encephalitis
granulomatous angiitis class of disease vasculitis central nervous system vasculitis
Human disease
DOID:2555
granulomatous dermatitis class of disease dermatitis
Human disease
DOID:4397
granulomatous endometritis class of disease endometritis chronic endometritis Human disease
DOID:4561
granulomatous gastritis class of disease gastritis chronic gastritis
Human disease
DOID:4038
granulomatous hepatitis class of disease hepatitis hepatic granuloma Human disease
DOID:2239
granulomatous myositis class of disease myositis
Human disease
DOID:3428
granulomatous orchitis class of disease testicular disease
Human disease
DOID:3089
granulosa cell tumour
class of disease ovarian cancer sex cord-gonadal stromal tumor
Human disease
DOID:2999
C04.557.475.750.656 C04.588.322.455.398 C13.351.500.056.630.705.398 C13.351.937.418.685.398 C19.344.410.398 C19.391.630.705.398
Granulosa cell tumors
gray zone lymphoma
class of disease lymphoma
lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas
DOID:5822
green color blindness class of disease dichromatopsia deuteranopia
human disease
DOID:13909
green mud crab allergy class of disease crustacean allergy crustacean allergy triggered by Scylla paramamosain
DOID:0060526
growth hormone insensitivity syndrome with immune dysregulation 2 class of disease syndrome autosomal dominant disease human disease
DOID:0080837
growth hormone secreting pituitary adenoma 2 class of disease growth hormone secreting pituitary adenoma human disease
DOID:0112007
gynatresia class of disease female reproductive system disease atresia
Human disease
DOID:429
C13.351.500.320
gynecomastia
class of disease sex differentiation disease human disorder, which causes the appearance of breasts in males
DOID:12698
C17.800.090.875
Gynecomastia
gyrate atrophy of the choroid
class of disease disease choroid disease central gyrate choroidal dystrophy Human disease
DOID:1415
C11.270.468 C11.941.160.578 C16.320.290.468
haemophilus meningitis
class of disease bacterial meningitis Haemophilus influenzae infectious disease bacterial meningitis that has material basis in Haemophilus influenzae infection
DOID:0080179
C01.150.252.223.500.425 C01.150.252.400.700.433.615 C10.228.228.180.500.425 C10.586.625.280.393 C01.207.180.500.425
hair diseases
class of disease integumentary system disease integumentary system disease that is located in hair
DOID:421
C17.800.329
hair follicle neoplasm class of disease skin benign neoplasm hair diseases
skin tumor derived from the hair matrix
DOID:5375
hairy cell leukemia
class of disease chronic lymphocytic leukemia B-cell leukemia disease
chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope
DOID:285
C04.557.337.415 C15.604.515.553 C20.683.515.517
Hairy cell leukemia
hairy tongue
class of disease tongue disease disease
Human disease
DOID:13500
C07.465.910.791
Black hairy tongue
hallucinogen abuse class of disease substance abuse
substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences
DOID:12797
hallucinogen dependence class of disease substance dependence hallucinogen abuse drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance
DOID:9977
hand dermatosis class of disease skin disease
disease class
DOID:3158
C17.800.338
head and neck cancer
class of disease organ system cancer head and neck neoplasms respiratory system cancer disease
organ system cancer in the head or neck region
DOID:11934 DOID:3680
Head and neck cancer
head and neck carcinoma class of disease head and neck cancer carcinoma
human disease
DOID:1542
heart cancer
class of disease cardiovascular cancer Primary tumors of the heart heart disease thoracic cancer cardiovascular cancer located in the heart
DOID:117
Heart cancer
heart disease
class of disease cardiovascular disease
cardiovascular system disease that involves the heart
DOID:114
C14.280
Diseases and disorders of the heart
heart fibrosarcoma class of disease heart sarcoma fibrosarcoma
Human disease
DOID:6033
heart leiomyosarcoma class of disease heart sarcoma Human disease
DOID:5261
heart lipoma class of disease cardiovascular organ benign neoplasm Primary tumors of the heart heart disease benign neoplasm of heart lipoma
Human disease
DOID:6285
heart lymphoma class of disease heart cancer lymphoma
Human disease
DOID:6547
heart malignant hemangiopericytoma class of disease heart sarcoma hemangiopericytoma
heart sarcoma that is a soft tissue sarcoma located in the heart
DOID:6034
heart sarcoma class of disease heart cancer
sarcoma and malignant neoplasm of heart that is located in the heart
DOID:5262
heart septal defect
class of disease congenital heart disease
Human disease
DOID:1681
C14.240.400.560 C14.280.400.560 C16.131.240.400.560
Heart septal defects
heart valve disease
class of disease heart disease disease
disease in the valves of the heart
DOID:4079
C14.280.484
Diseases and disorders of the heart valves
heavy chain disease
class of disease type IV hypersensitivity
hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains
DOID:0060125
C15.378.147.780.490 C15.604.515.435 C20.683.780.490
hemangioblastoma
class of disease hemangioma rare nervous system tumor disease
tumor of the central nervous system that originates from the vascular system
DOID:5241
C04.557.645.375.380.370
Hemangioblastomas
hemangioma
class of disease angioma vascular neoplasm cardiovascular organ benign neoplasm benign neoplasms by histologic type vascular disease disease
cell type benign neoplasm that has physical basis in endothelial cells that line blood vessels
DOID:255
C04.557.645.375
Skin hemangioma
hemangioma of intra-abdominal structure class of disease hemangioma
Human disease
DOID:254
hemangioma of lung class of disease hemangioma lung benign neoplasm human disease
DOID:490
hemangioma of orbit class of disease orbital disease hemangioma
Human disease
DOID:14459
hemangioma of peripheral nerve class of disease hemangioma peripheral nervous system benign neoplasm peripheral neuropathy
Human disease
DOID:482
hemangioma of spleen class of disease splenic disease hemangioma of intra-abdominal structure Human disease
DOID:256
hemangioma of subcutaneous tissue class of disease skin hemangioma subcutaneous tissue disease vascular skin disease skin benign neoplasm hemangioma
Human disease
DOID:13081
hemangiopericytic tumor class of disease perivascular tumor Human disease
DOID:3850
hemangiopericytoma
class of disease connective tissue neoplasm hemangiopericytic tumor soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries
DOID:264
C04.557.645.380
Haemangiopericytoma
hematocele of tunica vaginalis testis
class of disease symptom or sign
testicular disease hematocele Human disease
DOID:12332
C12.294.287 C23.550.414.817
Hematocele
hematologic cancer class of disease symptom or sign
organ system cancer hematopoietic system disease tumor of hematopoietic and lymphoid tissues
immune system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes
DOID:2531
Cancers of the lymph nodes and haematopoiesis
hematopoietic system disease
class of disease symptom disease of anatomical entity disorder which primarily affects the blood
DOID:74
C15.378
Diseases and disorders of the blood
hemidystonia class of disease multifocal dystonia multifocal dystonia that involves the arm and leg on the same side of the body
DOID:0050846
hemiparesis
class of disease symptom or sign
paresis paralysis central nervous system disease disease
weakness of one side of the body
DOID:10969
hemochromatosis type 1 class of disease HFE hereditary haemochromatosis genetic disease
hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22
DOID:0111029
hemochromatosis type 2
class of disease iron overload HFE hereditary haemochromatosis
hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis
DOID:0111034
hemochromatosis type 2B class of disease hemochromatosis type 2 genetic disease
hemochromatosis type 2 that has material basis in homozygous mutation in the HAMP gene on chromosome 19q13
DOID:0111032
hemoglobin C
class of disease hemoglobinopathy congenital hemolytic anemia disease
Human disease
DOID:2859
C15.378.071.141.150.490 C15.378.420.463 C16.320.070.490 C16.320.365.463
hemoglobin D disease class of disease hemoglobinopathy congenital hemolytic anemia
Human disease
DOID:5378
hemoglobin E
class of disease hemoglobinopathy congenital hemolytic anemia
variant form of human hemoglobin
DOID:5379
D12.776.124.400.463.375 D12.776.422.316.762.426.375
hemoglobin H disease
class of disease alpha thalassemia
alpha thalassemia that has material basis in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other
DOID:0110031
hemoglobinopathy
class of disease congenital hemolytic anemia genetic disease hemolytic anemia hemoglobin variant disease
genetic defect causing abnormal hemoglobin structure
DOID:2860
C15.378.420 C16.320.365
hemoglobinuria
class of disease proteinuria hemolytic anemia disease
condition in which the oxygen transport protein hemoglobin is found in abnormally high concentrations in the urine
DOID:582
C12.777.934.734.634 C13.351.968.934.734.634 C23.888.942.750.634
hemolytic-uremic syndrome
class of disease kidney disease disease
Human disease
DOID:12554
C12.050.351.968.419.936.463 C12.200.777.419.936.463 C15.378.071.141.610 C15.378.140.855.925.500 C12.950.419.936.463 C15.378.243.937.925.500
Hemolytic-uremic syndrome
hemometra
class of disease uterine disease menstrual disorder disease
Human disease
DOID:9958
C13.351.500.852.495
Hematometra
hemopericardium
class of disease pericardial effusion
pericardial effusion that results from blood in the pericardial sac
DOID:11482
Hemopericardium
hemophagocytic lymphohistiocytosis
class of disease lymphatic system disease disease
uncommon hematologic disorder seen more often in children than in adults
DOID:0050120
C15.604.250.410.575
Hemophagocytic lymphohistiocytosis
hemophilia A
class of disease symptom or sign
hemophilia coagulation factor deficiency X-linked recessive disease blood coagulation disease disease
X-linked disease that has material basis in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged
DOID:12134
C15.378.100.100.500 C15.378.100.141.500 C15.378.463.500 C16.320.099.500
Hemophilia A
hemophilia B
class of disease coagulation factor deficiency inherited blood coagulation disease X-linked recessive disease blood coagulation disease disease
An inherited blood coagulation disease that has material basis in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
DOID:12259
C15.378.100.100.510 C15.378.100.141.510 C15.378.463.510 C16.320.099.510 C16.320.322.235
Hemophilia B
hemopneumothorax
class of disease pneumothorax hemothorax disease
medical term describing the combination of two conditions: pneumothorax, or air in the chest cavity, and hemothorax (also called hæmothorax), or blood in the chest cavity
DOID:2718
C08.528.338 C23.550.414.904.500
hemorrhagic cystitis
class of disease cystitis
Inflammation of the bladder resulting in bloody urine
DOID:0050859
C12.050.351.968.829.495.250 C12.200.777.829.495.250 C12.950.829.495.250
hemorrhagic disease
class of disease blood coagulation disease disease
human disease
DOID:2213
C15.378.463
hemorrhoid
class of disease gastrointestinal system disease pelvic varices anorectal disorder anal disease skin disease disease
vascular structures in the anal canal
DOID:9746
C06.405.469.860.401 C14.907.449
Hemorrhoids
hemosiderosis
class of disease iron overload iron metabolism disease disease
iron metabolism disease that has material basis in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload
DOID:12119
C18.452.565.500.500
Hemosiderosis
hepatic angiomyolipoma class of disease liver neoplasm Human disease
DOID:3317
hepatic flexure cancer class of disease ascending colon cancer Human disease
DOID:260
hepatic hemangioma
class of disease liver neoplasm hemangioma of intra-abdominal structure hemangioma hepatic vascular disease non-cancerous tumor of the liver
DOID:271
Liver hemangioma
hepatic infarction class of disease hepatic vascular disease infarction ischemic hepatitis
Human disease
DOID:13738
C06.552.289 C23.550.513.355.500 C23.550.717.489.500
Hepatic infarction
hepatic osteogenic sarcoma class of disease extraosseous osteosarcoma liver cancer
Human disease
DOID:6370
hepatic vascular disease class of disease vascular disease liver disease
vascular disease that is located in the liver
DOID:272
hepatic veno-occlusive disease
class of disease hepatic vascular disease vein disorder
hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver
DOID:0080177
C06.552.360 C14.907.460
hepatitis
class of disease symptom or sign
liver disease inflammation liver symptom disease
inflammation of the liver tissue
DOID:2237
C06.552.380
Hepatitis
hepatobiliary neoplasm class of disease gastrointestinal system benign neoplasm liver and intrahepatic bile duct neoplasm gastrointestinal system neoplasm located in the hepatobiliary system
DOID:3117
hepatobiliary system cancer class of disease gastrointestinal system cancer liver and intrahepatic bile duct neoplasm gastrointestinal system cancer that is located in the hepatobiliary system
DOID:0080355
hepatoblastoma
class of disease liver cancer disease
uncommon malignant liver cancer occurring in infants and children
DOID:687
C04.557.435.380
Hepatoblastoma
hepatocellular adenoma
class of disease liver neoplasm endocrine gland cancer benign neoplasms by histologic type adenoma disease
Hepatocellular adenoma (HA) is a rare benign tumor of the liver
DOID:0050868
C04.557.470.035.120 C04.588.274.623.040 C06.301.623.040 C06.552.697.040
Hepatic adenoma
hepatocellular carcinoma
class of disease liver carcinoma disease
liver carcinoma that has material basis in undifferentiated hepatocytes
DOID:684
C04.557.470.200.025.255 C04.588.274.623.160 C06.301.623.160 C06.552.697.160
Hepatocellular carcinoma
hepatocellular clear cell carcinoma class of disease hepatocellular carcinoma clear cell carcinoma clear cell adenocarcinoma
Human disease
DOID:5016
hepatoid adenocarcinoma
class of disease adenocarcinoma
adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver
DOID:0060534
hepatoid pattern ovarian yolk sac tumor class of disease ovarian endodermal sinus tumor Human disease
DOID:6512
hepatoid pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:8195
hepatopulmonary syndrome
class of disease liver disease
Human disease
DOID:900
C06.552.455 C08.381.385
hepatorenal syndrome
class of disease acute kidney injury disease
Human disease
DOID:11823
C06.552.465 C12.777.419.291 C13.351.968.419.291
Hepatorenal syndrome
hereditary ataxia class of disease neurodegeneration
neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements
DOID:0050951
hereditary Wilms' tumor class of disease nephroblastoma inherited renal tumor nephroblastoma that results in either bilateral disease or a family history of Wilms' tumour
DOID:5183
hereditary alpha tryptasemia syndrome class of disease gene duplication disease syndrome
DOID:0080714
hereditary angioedema
class of disease symptom or sign
angioedema disease
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain
DOID:14735
C14.907.079.500 C16.320.798.500.500 C17.800.862.945.066.500 C20.543.480.904.066.500 C20.673.795.500.500
Hereditary angioedema
hereditary breast ovarian cancer
class of disease autosomal dominant disease hereditary neoplastic syndromes syndrome disease
autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families
DOID:5683
C04.588.180.483 C04.588.322.455.431 C04.700.517 C13.351.500.056.630.705.431 C13.351.937.418.685.431 C16.320.700.517 C17.800.090.500.483 C19.344.410.431 C19.391.630.705.431
hereditary choroidal atrophy class of disease choroidal sclerosis human disease
DOID:9794
hereditary combined deficiency of vitamin K-dependent clotting factors class of disease monogenic disease blood coagulation disease
human disease
DOID:0112172
hereditary conventional renal cell carcinoma class of disease hereditary renal cell carcinoma renal clear cell carcinoma
Human disease
DOID:7192
hereditary diffuse gastric cancer
class of disease hereditary gastric cancer stomach cancer autosomal dominant disease diffuse gastric cancer medical condition
DOID:0080764
hereditary lymphedema
class of disease lymphedema Primary lymphedema disease
lymphedema commonly located in legs, caused by congenital abnormalities in the lymphatic system
DOID:0050580
hereditary lymphedema I class of disease hereditary lymphedema
hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood
DOID:0070212
hereditary lymphedema IA class of disease hereditary lymphedema genetic disease autosomal dominant disease hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the FLT4 gene on chromosome 5q35
DOID:0070210
hereditary lymphedema IB class of disease hereditary lymphedema autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in the chromosomal region 6q16.2-q22.1.
DOID:0070211
hereditary lymphedema IC class of disease hereditary lymphedema genetic disease autosomal dominant disease hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the GJC2 gene on chromosome 1q42
DOID:0070208
hereditary lymphedema ID class of disease hereditary lymphedema genetic disease autosomal dominant disease hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the VEGFC gene on chromosome 4q34
DOID:0070209
hereditary lymphedema II class of disease hereditary lymphedema autosomal dominant disease hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance
DOID:0070213
hereditary mixed polyposis syndrome 1 class of disease hereditary mixed polyposis syndrome chromosomal duplication syndrome human disease
DOID:0111685
hereditary motor and sensory neuropathy
class of disease congenital disorder Sensorimotor neuropathy peripheral neuropathy hereditary peripheral neuropathy congenital disorder of nervous system
DOID:2477
C10.500.300 C10.574.500.495 C10.668.829.800.300 C16.131.666.300 C16.320.400.375
Hereditary motor and sensory neuropathies
hereditary neutrophilia class of disease leukocyte disease neutrophilia rare genetic immune disease genetic hematologic disease genetic disease autosomal dominant disease human disease
DOID:0090120
hereditary night blindness class of disease night blindness
Human disease
DOID:8498
hereditary nonpolyposis colorectal cancer type 2 class of disease Lynch syndrome
A Lynch syndrome that has material basis in mutations in the MLH1 gene on chromosome 3p22.2.
DOID:0070274
hereditary nonpolyposis colorectal cancer type 4 class of disease Lynch syndrome
Lynch syndrome that has material basis in heterozygous mutation in the PMS2 gene on chromosome 7p22
DOID:0070275
hereditary nonpolyposis colorectal cancer type 5 class of disease Lynch syndrome
Lynch syndrome that has material basis in heterozygous mutation in the MSH6 gene on chromosome 2p16
DOID:0070272
hereditary nonpolyposis colorectal cancer type 6 class of disease Lynch syndrome
Lynch syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p22
DOID:0070273
hereditary nonpolyposis colorectal cancer type 7 class of disease Lynch syndrome
A Lynch syndrome that has material basis in mutation in the MLH3 gene on chromosome 14q24.3.
DOID:0070276
hereditary nonpolyposis colorectal cancer type 8 class of disease Lynch syndrome chromosomal deletion syndrome
human disease
DOID:0070270
hereditary papulotranslucent acrokeratoderma class of disease cholesteatoma
keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis
DOID:0060360
hereditary renal cell carcinoma class of disease renal cell carcinoma inherited renal tumor human disease
DOID:4455
hereditary retinal dystrophy class of disease fundus dystrophy genetic disease hereditary eye disease Human disease
DOID:8500
hereditary sensory and autonomic neuropathy
class of disease hereditary disorder peripheral neuropathy
congenital disorder of nervous system
DOID:0050548
C10.500.250 C10.574.500.493 C10.668.829.800.175 C16.131.666.310 C16.320.400.415
hereditary sensory and autonomic neuropathy type 1 class of disease hereditary sensory and autonomic neuropathy
hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance
DOID:0070162
hereditary sensory and autonomic neuropathy type 1A class of disease hereditary sensory and autonomic neuropathy type 1 genetic disease autosomal dominant disease hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has material basis in heterozygous mutation in the SPTLC1 gene on chromosome 9q22
DOID:0070152
hereditary sensory and autonomic neuropathy type 2 class of disease hereditary sensory and autonomic neuropathy
hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood
DOID:0070161
hereditary sensory neuropathy X-linked class of disease hereditary sensory and autonomic neuropathy X-linked recessive disease hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life
DOID:0070159
hereditary sensory neuropathy type 1B class of disease hereditary sensory and autonomic neuropathy genetic disease autosomal dominant disease hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has material basis in variation in the chromosome region 3p24-p22
DOID:0070148
hereditary spastic paraplegia 14 class of disease hereditary spastic paraplegia pure or complex autosomal recessive spastic paraplegia autosomal recessive disease hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28
DOID:0110767
hereditary spastic paraplegia 16 class of disease hereditary spastic paraplegia pure or complex X-linked spastic paraplegia X-linked recessive disease A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.
DOID:0110769
hereditary spastic paraplegia 19 class of disease hereditary spastic paraplegia autosomal dominant pure spastic paraplegia autosomal dominant disease hereditary spastic paraplegia that has material basis in variation in the chromosome region 9q
DOID:0110772
hereditary spastic paraplegia 24 class of disease hereditary spastic paraplegia autosomal recessive complex spastic paraplegia autosomal recessive disease hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14
DOID:0110775
hereditary spastic paraplegia 25 class of disease hereditary spastic paraplegia autosomal recessive complex spastic paraplegia autosomal recessive disease A hereditary spastic paraplegia that has material basis in variation in the chromosome region 6q23-q24.1.
DOID:0110776
hereditary spastic paraplegia 27 class of disease hereditary spastic paraplegia autosomal recessive complex spastic paraplegia autosomal recessive disease A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.
DOID:0110778
hereditary spastic paraplegia 29 class of disease hereditary spastic paraplegia autosomal dominant complex spastic paraplegia autosomal dominant disease A hereditary spastic paraplegia that has material basis in variation in the chromosome region 1p31.1-p21.1.
DOID:0110780
hereditary spastic paraplegia 32 class of disease hereditary spastic paraplegia autosomal recessive complex spastic paraplegia autosomal recessive disease hereditary spastic paraplegia that has material basis in variation in the chromosome region 14q12-q21
DOID:0110783
hereditary spastic paraplegia 34 class of disease hereditary spastic paraplegia X-linked pure spastic paraplegia X-linked recessive disease hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq24-q25
DOID:0110785
hereditary spastic paraplegia 36 class of disease hereditary spastic paraplegia autosomal dominant complex spastic paraplegia autosomal dominant disease hereditary spastic paraplegia that has material basis in variation in the chromosome region 12q23-q24
DOID:0110787
hereditary spastic paraplegia 37 class of disease hereditary spastic paraplegia autosomal dominant pure spastic paraplegia autosomal dominant disease A hereditary spastic paraplegia that has material basis in variation in the chromosome region 8p21.1-q13.3.
DOID:0110788
hereditary spastic paraplegia 38 class of disease hereditary spastic paraplegia autosomal dominant complex spastic paraplegia autosomal dominant disease hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15
DOID:0110789
hereditary spastic paraplegia 41 class of disease hereditary spastic paraplegia autosomal dominant pure spastic paraplegia autosomal dominant disease A hereditary spastic paraplegia that has material basis in variation in the chromosome region 11p14.1-p11.2.
DOID:0110793
hereditary spherocytosis
class of disease congenital hemolytic anemia spherocytosis disease
congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape
DOID:12971
C15.378.071.141.150.785 C16.320.070.785
Hereditary spherocytosis
hereditary spherocytosis type 3 class of disease hereditary spherocytosis genetic disease autosomal recessive disease A hereditary spherocytosis that has material basis in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1.
DOID:0110918
hernia of ovary and fallopian tube class of disease female reproductive system disease
Human disease
DOID:12735
heroin dependence class of disease opiate dependence opiate dependence that involves the continued use of heroin despite problems related to use of the substance
DOID:9976
C25.775.675.400
herpes gestationis
class of disease vesiculobullous skin disease dermatosis of pregnancy pemphigoid autoimmune skin disease disease
dermatosis of pregnancy
DOID:14482 DOID:0040098
C13.703.570 C17.800.865.700
Gestational pemphigoid
hexahydrophthalic anhydride allergic asthma class of disease allergic asthma allergic asthma that has allergic trigger hexahydrophthalic anhydride
DOID:0040051
hexamethylene diisocyanate allergic asthma class of disease isocyanates allergic asthma allergic asthma to isocyanates that has allergic trigger hexamethylene diisocyanate
DOID:0040040
hidradenitis
class of disease sweat gland disease human disease
DOID:2282
C17.800.946.315
hidradenoma
class of disease sweat gland neoplasm epithelial skin neoplasm benign neoplasms by histologic type human disease
DOID:3896
C04.557.470.035.175 C04.557.470.550.175
Hidradenoma
hidrocystoma
class of disease apocrine sweat gland neoplasm benign neoplasm of sweat gland Human disease
DOID:3893
C04.557.470.035.175.375 C04.557.470.550.175.375
Hidrocystoma
high pressure neurological syndrome
class of disease central nervous system disease diving disorder
neurological and physiological disorder experienced by divers
DOID:3230
C10.228.566 C24.410
hilar lung carcinoma class of disease lung carcinoma lung hilum cancer Human disease
DOID:8207
hilar lung neoplasm class of disease lung benign neoplasm Human disease
DOID:5767
histidine metabolism disease class of disease amino acid metabolic disorder amino acid metabolic disorder that involves deficiency in histidine
DOID:9265
histidinemia
class of disease histidine metabolism disease histidine metabolism disease that involves a deficiency of the enzyme histidase
DOID:0060168
histiocytic and dendritic cell cancer class of disease hematologic cancer lymphoid hemopathy sarcoma and hematologic cancer that derives from follicular lymphoma
DOID:5621
histiocytoid hemangioma class of disease hemangioma
Human disease
DOID:474
histiocytoma
class of disease connective tissue neoplasm connective tissue benign neoplasm Human disease
DOID:4231
C04.557.450.565.590.425
Histiocytoma
histiocytosis
class of disease lymphatic system disease disease
lymphatic system disease that is characterized by an excessive number of histiocytes
DOID:3405
C15.604.250
Histiocytoses
histoplasmosis
class of disease primary systemic mycosis genetic disease disease
human disease
DOID:1731
C01.150.703.450
Histoplasmosis
histoplasmosis meningitis class of disease fungal meningitis histoplasmosis
Human disease
DOID:12246
histoplasmosis retinitis
class of disease retinitis
Human disease
DOID:11316
Presumed ocular histoplasmosis syndrome
histrionic personality disorder
class of disease personality disorder disease
personality disorder characterized by excessive emotionality and attention-seeking
DOID:334
F03.675.400
Histrionic personality disorder
hole retinal cyst class of disease degeneration of macula and posterior pole retinoschisis and retinal cysts retinal perforation Human disease
DOID:13214
holoprosencephaly
class of disease symptom or sign
nervous system malformations syndrome disease
congenital disorder of the nervous system
DOID:4621
C05.660.207.410 C10.500.034.875 C16.131.077.410 C16.131.260.380 C16.131.621.207.410 C16.131.666.034.875 C16.320.180.380
Holoprosencephaly
holoprosencephaly 1 class of disease holoprosencephaly genetic disease autosomal dominant disease A holoprosencephaly that has material basis in variation in the chromosome region 21q22.3.
DOID:0110881
holoprosencephaly 2 class of disease holoprosencephaly genetic disease autosomal dominant disease holoprosencephaly that has material basis in mutation in the homeobox-containing SIX3 gene on chromosome 2p21
DOID:0110872
holoprosencephaly 5 class of disease holoprosencephaly genetic disease autosomal dominant disease holoprosencephaly that has material basis in heterozygous mutation in the ZIC2 gene on chromosome 13q32
DOID:0110878
holoprosencephaly 6 class of disease holoprosencephaly genetic disease
A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.
DOID:0110874
holoprosencephaly 8 class of disease holoprosencephaly genetic disease
holoprosencephaly that has material basis in variation in the chromosome region 14q13
DOID:0110879
holoprosencephaly 9 class of disease holoprosencephaly genetic disease autosomal dominant disease holoprosencephaly that has material basis in heterozygous mutation in the GLI2 gene on chromosome 2q14
DOID:0110873
homocarnosinosis class of disease gamma-amino butyric acid metabolism disorder inborn disorder of peptide metabolism encephalopathy
gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has material basis in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine
DOID:0060177
hordeolum
class of disease symptom or sign
blepharitis eyelid disease disease
bacterial infection of an oil gland in the eyelid
DOID:9909
C01.150.252.289.400 C01.375.354.400 C11.294.354.400 C11.338.648
Stye
hordeolum externum class of disease blepharitis
human disease
DOID:13134
horned turban snail allergy class of disease snail allergy snail allergy triggered by Turbo cornutus
DOID:0060531
human cytomegalovirus infection class of disease viral infectious disease cytomegaloviral disease human disease
DOID:0080827
human immunodeficiency virus infectious disease class of disease viral infectious disease Lentivirus infectious disease disease affecting the human immune system
DOID:526
C20.673.480 C01.778.640.400 C01.925.782.815.616.400 C01.925.813.400 C01.221.250.875 C01.221.812.640.400 C12.100.937.640.400
human monocytic ehrlichiosis
class of disease ehrlichiosis disease
human disease
DOID:0050026
humeroradial synostosis class of disease synostosis
Human disease
DOID:0060467
hyaline body myopathy class of disease congenital myopathy
human disease
DOID:0111267
hyaline fibromatosis syndrome class of disease autosomal recessive disease connective tissue disease fibromatosis
human disease
DOID:0111669
hyalinizing trabecular adenoma
class of disease follicular adenoma thyroid adenoma
human disease
DOID:6203
hydranencephaly with renal aplasia-dysplasia class of disease genetic disease autosomal recessive disease syndrome
human disease
DOID:0080327
hydrocele
class of disease male reproductive system disease
human disease
DOID:9912
C12.294.882
Hydrocele
hydrolethalus syndrome 1 class of disease hydrolethalus syndrome
human disease
DOID:0111355
hydrolethalus syndrome 2 class of disease hydrolethalus syndrome
human disease
DOID:0111356
hydronephrosis
class of disease urinary tract obstruction kidney disease disease
human disease
DOID:11111
C12.777.419.307 C13.351.968.419.307
Hydronephrosis
hydrophthalmos
class of disease primary congenital glaucoma
Human disease
DOID:11212
C11.250.480 C11.525.381.407.480 C16.131.384.480 C16.614.438
hydrops of gallbladder class of disease gallbladder disease
Human disease
DOID:9717
hyper IgE recurrent infection syndrome 2 class of disease autosomal recessive disease Job's syndrome
human disease
DOID:0080594
hyper IgE recurrent infection syndrome 3 class of disease Job's syndrome autosomal recessive disease human disease
DOID:0080595
hyper IgE recurrent infection syndrome 4 class of disease autosomal recessive disease Job's syndrome
human disease
DOID:0080596
hyper-IgM syndrome type 4
class of disease hyper IgM syndrome hyperimmunoglobulin syndrome hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process
DOID:0060760
hyperalphalipoproteinemia 1 class of disease cholesterol-ester transfer protein deficiency autosomal dominant disease hyperalphalipoproteinemia human disease
DOID:0111369
hyperandrogenism
class of disease gonadal disease sex differentiation disease disease
medical condition characterized by excessive levels of androgens in the body
DOID:11613
C12.050.351.875.253.064.500 C12.050.351.875.253.090.750 C16.131.939.316.064.500 C16.131.939.316.129.750 C19.391.119.064.500 C19.391.119.090.750 C12.200.706.316.064.500 C12.200.706.316.090.750 C12.800.316.064.500 C12.800.316.090.750
Hyperandrogenism
hypercalcemia
class of disease calcium metabolism disease disease
high calcium (Ca2+) level in the blood serum
DOID:12678
C18.452.174.451 C18.452.950.340
Hypercalcemia
hypercalcemic sarcoidosis class of disease sarcoidosis hypercalcemia
Human disease
DOID:13407
hypercalcemic type ovarian small cell carcinoma class of disease ovarian small cell carcinoma Human disease
DOID:7651
hypercementosis
class of disease teeth hard tissue disease Human disease
DOID:12733
C07.793.422
hyperekplexia 1 class of disease hyperekplexia genetic disease autosomal recessive disease autosomal dominant disease hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32
DOID:0060696
C10.228.590
hyperekplexia 4 class of disease hyperekplexia autosomal recessive disease hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has material basis in homozygous mutation in the ATAD1 gene on chromosome 10q23
DOID:0080581
hyperglobulinemic purpura class of disease purpura
Human disease
DOID:3325
C14.907.454.550 C15.378.100.802.250 C15.378.463.515.550 C23.550.414.950.250 C23.888.885.687.250
hyperglycemia
class of disease abnormally high value glucose metabolism disease disease
human disease
DOID:4195
C18.452.394.952
Hyperglycemia
hyperhomocysteinemia
class of disease sulfuraminoacidemia amino acid metabolic disorder disease
amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood
DOID:9279
C16.320.565.100.480 C18.452.603.378 C18.452.648.100.480 C18.654.521.500.133.699.418
hyperimmunoglobulin syndrome class of disease B cell deficiency Human disease
DOID:2959
hyperinsulinemia
class of disease endocrine pancreas disease glucose metabolism disease pancreas disease
condition in which there are excess levels of insulin circulating in the blood relative to the level of glucose
DOID:2018
hyperlipoproteinemia type IV class of disease hyperlipidemia familial hyperlipidemia human disease
DOID:1172
C16.320.565.398.487 C18.452.584.500.500.644.490 C18.452.584.500.500.851.500 C18.452.648.398.487 C18.452.584.563.487
hypermanganesemia with dystonia class of disease metal metabolism disorder
metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese
DOID:0080535
hypermanganesemia with dystonia 1 class of disease hypermanganesemia with dystonia human disease
DOID:0080536
hypermethioninemia
class of disease amino acid metabolic disorder An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
DOID:0050544
hypermobility of coccyx class of disease spondyloarthropathy
Human disease
DOID:12537
hypermobility syndrome
class of disease arthropathy joint hypermobility disease
human disease: joints that stretch farther than normal
DOID:13781
Hypermobility
hyperopia
class of disease symptom or sign
refractive error disease
visual defect which causes to see the far objects clearly and near objects unclearly
DOID:9834
C11.744.479
Hyperopia
hyperostosis
class of disease bone remodeling disease disease
human disease
DOID:205
C05.116.540
Hyperostosis
hyperphosphatemia
class of disease phosphorus metabolism disease genetic disease disease
electrolyte disorder in which there is an elevated level of phosphate in the blood.
DOID:0050459
C18.452.750.199
Hyperphosphatemia
hyperphosphatemic familial tumoral calcinosis class of disease calcinosis genetic disease Tumoral calcinosis autosomal recessive disease human disease
DOID:0111063
hyperpigmentation of eyelid class of disease pigmentation disorder eyelid disease Human disease
DOID:10122
hyperpituitarism
class of disease pituitary gland disease anterior pituitary gland disease disease
endocrine disease
DOID:2444
C10.228.140.617.738.250 C19.700.355
hyperprolinemia type 1 class of disease hyperprolinemia autosomal recessive disease hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11
DOID:0080542
hyperprolinemia type 2 class of disease hyperprolinemia autosomal recessive disease hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36
DOID:0080543
hyperprothrombinemia
class of disease thrombophilia autosomal dominant disease human disease
DOID:0080701
hypersecretion glaucoma class of disease glaucoma
Human disease
DOID:11148
hypersensitivity vasculitis class of disease type III hypersensitivity
Human disease
DOID:9809
C14.907.940.910 C20.543.520.910
hypersomnia
class of disease symptom or sign
sleep disorder neurological disorder sleep disturbance disease
excessive sleep
DOID:8619
C10.886.425.800.200 F03.870.400.800.200
hypersplenism class of disease splenic disease disease
Human disease
DOID:6376
C15.604.744.293
hypertensive encephalopathy
class of disease intracranial hypertension encephalomyelitis disease
general brain dysfunction due to significantly high blood pressure
DOID:9427
C10.228.140.631.500
hypertensive retinopathy
class of disease retinal disease complications of hypertension disease
Human disease
DOID:11561
C11.768.346 C14.907.489.815
Hypertensive retinopathy
hyperthecosis
class of disease ovarian disease
hyperplasia of the theca interna of the ovary
DOID:7347
hypertrichosis
class of disease hair diseases epidermal disease genetic hair anomaly disease
hair disease characterized by hair growth that is abnormal in quantity or location
DOID:420
C17.800.329.875
Hypertrichosis
hypertrichosis of eyelid class of disease eyelid degenerative disease hypertrichosis nervous system heredodegenerative disease eyelid disease hypertrichosis (disease) that involves the eyelid
DOID:11669
hypertrophic cardiomyopathy 1 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYH7 gene on chromosome 14q12
DOID:0110307
hypertrophic cardiomyopathy 10 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in mutation in the MYL2 gene
DOID:0110316
hypertrophic cardiomyopathy 11 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14
DOID:0110317
hypertrophic cardiomyopathy 12 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the CSRP3 gene on chromosome 11p15
DOID:0110318
hypertrophic cardiomyopathy 13 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNC1 gene on chromosome 3p21
DOID:0110319
hypertrophic cardiomyopathy 14 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in mutation in the MYH6 gene
DOID:0110320
hypertrophic cardiomyopathy 15 class of disease familial hypertrophic cardiomyopathy human disease
DOID:0110321
hypertrophic cardiomyopathy 16 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYOZ2 gene on chromosome 4q26
DOID:0110322
hypertrophic cardiomyopathy 17 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12
DOID:0110323
hypertrophic cardiomyopathy 18 class of disease familial hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
DOID:0110324
hypertrophic cardiomyopathy 2 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)
DOID:0110308
hypertrophic cardiomyopathy 20 class of disease familial hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that hhas material basis in heterozygous mutation in the NEXN gene on chromosome 1p31.1.
DOID:0110326
hypertrophic cardiomyopathy 21 class of disease familial hypertrophic cardiomyopathy A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.
DOID:0110311
hypertrophic cardiomyopathy 25 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TCAP gene on chromosome 17q12
DOID:0110328
hypertrophic cardiomyopathy 3 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22
DOID:0110309
hypertrophic cardiomyopathy 4 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11
DOID:0110310
hypertrophic cardiomyopathy 6 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)
DOID:0110312
hypertrophic cardiomyopathy 7 class of disease familial hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.
DOID:0110313
hypertrophic cardiomyopathy 8 class of disease familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy that has material basis in homozygous or heterozygous mutation in the MYL3 gene
DOID:0110314
hypertrophic elongation of cervix class of disease cervix disease Human disease
DOID:2251
hypertrophic pyloric stenosis class of disease pyloric stenosis
pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting
DOID:12638
C06.405.748.340.690.500
hypertrophy of tongue papillae class of disease tongue disease
Human disease
DOID:13333
hypertropia
class of disease strabismus disease
Human disease
DOID:9837
Hypertropia
hyperuricemia
class of disease acquired metabolic disease disease
acquired metabolic disease that has material basis in an abnormally high level of uric acid in the blood.
DOID:1920
C23.550.449
Hyperuricemia
hypervitaminosis A
class of disease overnutrition hypervitaminosis disease
Human disease
DOID:9972
C18.654.301
hypervitaminosis D
class of disease overnutrition hypervitaminosis disease
excess of Vitamin D leading to abnormalities
DOID:9971
hypoactive sexual desire disorder
class of disease psychosexual disorder sexual dysfunction disease
sexual dysfunction
DOID:13868
F03.835
hypobetalipoproteinemia
class of disease hypolipoproteinemia disease
hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats
DOID:1390
C16.320.565.398.500.440 C18.452.584.500.875.440 C18.452.648.398.500.440 C18.452.584.563.500.440
hypochondriasis
class of disease somatoform disorder nosophobia disease
somatoform disorder that involves an excessive preoccupation or worry about having a serious illness
DOID:12883
F03.875.450
hypochondrogenesis
class of disease osteochondrodysplasia achondrogenesis genetic disease spinal disease monogenic disease human disease
DOID:0080044
hypochromic anemia
class of disease anemia
generic term for any type of anemia in which the red blood cells (erythrocytes) are paler than normal
DOID:11759
C15.378.071.196
hypoglossal nerve disease class of disease glossopharyngeal nerve disease human disease
DOID:13814
C10.292.525
hypoglossal nerve neoplasm class of disease cranial nerve neoplasm hypoglossal nerve disease Human disease
DOID:3198
hypoglycemic coma class of disease encephalopathy coma hypoglycemia
human disease
DOID:1607
hypogonadism
class of disease gonadal disease disease
endocrine disease
DOID:1924
C19.391.482
Hypogonadism
hypogonadotropic hypogonadism 12 with or without anosmia class of disease hypogonadotropic hypogonadism genetic disease
hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21
DOID:0090072
hypogonadotropic hypogonadism 16 with or without anosmia class of disease hypogonadotropic hypogonadism genetic disease autosomal dominant disease hypogonadotropic hypogonadism that has material basis in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes
DOID:0090080
hypogonadotropic hypogonadism 2 with or without anosmia class of disease hypogonadotropic hypogonadism genetic disease
hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes
DOID:0090083
hypohidrosis class of disease sweat gland disease abnormal sudomotor regulation Human disease
DOID:11155
C17.800.946.370
hypolipoproteinemia
class of disease lipid metabolism disorder disease
Human disease
DOID:1387
C16.320.565.398.500 C18.452.584.500.875 C18.452.648.398.500 C18.452.584.563.500
hypomyelinating leukodystrophy class of disease leukodystrophy Hereditary CNS demyelinating disease
leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system
DOID:0060786
hypomyelinating leukodystrophy 14 class of disease hypomyelinating leukodystrophy autosomal recessive disease human disease
DOID:0080296
hypomyelinating leukoencephalopathy class of disease spinocerebellar ataxia
Human disease
DOID:0050987
hypoparathyroidism, familial isolated class of disease genetic hypoparathyroidism hypoparathyroidism
human disease
DOID:0111387
hypopharynx cancer
class of disease carcinoma pharyngeal cancer neoplasm of hypopharynx pharynx cancer that is located in the hypopharynx
DOID:8533
Hypopharyngeal cancer
hypophosphatemic nephrolithiasis/osteoporosis class of disease kidney disease familial hypophosphatemia human disease
DOID:0080655
hypopigmentation of eyelid class of disease eyelid degenerative disease pigmentation disorder eyelid disease human disease
DOID:11668
hypopyon
class of disease symptom or sign
iridocyclitis eye symptom disease
Human disease
DOID:10443
Hypopyon
hypopyon ulcer class of disease hypopyon corneal ulcer
Human disease
DOID:10442
hypospadias
class of disease non-syndromic urogenital tract malformation of male penile disease congenital disorder disease
condition in which the urethra does not open from the head of the penis
DOID:10892
C12.294.494.400 C12.706.516 C13.351.875.466 C16.131.939.516
Hypospadias
hypothalamic disease
class of disease thalamic disease encephalopathy
human disease
DOID:1931
C10.228.140.617
hypothalamic neoplasm class of disease diencephalic neoplasm brain cancer connective tissue neoplasm hypothalamic disease
human disease
DOID:3644
C04.588.614.250.195.885.500 C10.228.140.211.885.500 C10.228.140.617.477 C10.551.240.250.700.500
hypothyroidism
class of disease thyroid gland disease disease
human disease
DOID:1459
C19.874.482
Hypothyroidism
hypotonia-cystinuria syndrome class of disease syndrome cystinuria chromosomal deletion syndrome
human disease
DOID:0060858
hypotrichosis 1 class of disease hypotrichosis genetic disease autosomal dominant disease A hypotrichosis that has material basis in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22.
DOID:0110698
hypotrichosis 10 class of disease hypotrichosis genetic disease autosomal recessive disease A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.
DOID:0110707
hypotrichosis 14 class of disease hypotrichosis simplex hypotrichosis
human disease
DOID:0080582
hypotrichosis 4 class of disease hypotrichosis genetic disease autosomal dominant disease A hypotrichosis that has material basis in a autosomal dominant mutation of HR on chromosome 8p21.3.
DOID:0110701
hypotrichosis 5 class of disease hypotrichosis genetic disease autosomal dominant disease A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.
DOID:0110702
hypotrichosis 9 class of disease hypotrichosis genetic disease autosomal recessive disease A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
DOID:0110706
hypotrichosis of eyelid class of disease eyelid degenerative disease hypotrichosis eyelid disease hypotrichosis that involves the eyelid
DOID:11671
hypotropia class of disease strabismus
Human disease
DOID:9841
ichthyosis follicularis-alopecia-photophobia syndrome 1 class of disease X-linked recessive disease syndrome Ichthyosis follicularis with alopecia and photophobia syndrome
human disease
DOID:0111821
ideomotor apraxia
class of disease apraxia
Human disease
DOID:4627
C10.597.606.881.350.200 C23.888.592.604.882.350.200 F01.700.875.350.200
idiopathic corneal edema class of disease corneal edema Human disease
DOID:11033
idiopathic generalized epilepsy 11 class of disease generalized epilepsy
human disease
DOID:0111312
idiopathic generalized epilepsy 12 class of disease generalized epilepsy
human disease
DOID:0111313
idiopathic generalized epilepsy 13 class of disease generalized epilepsy
human disease
DOID:0111314
idiopathic generalized epilepsy 14 class of disease generalized epilepsy
human disease
DOID:0111315
idiopathic generalized epilepsy 15 class of disease generalized epilepsy
human disease
DOID:0111316
idiopathic generalized epilepsy 2 class of disease generalized epilepsy
human disease
DOID:0111317
idiopathic generalized epilepsy 3 class of disease generalized epilepsy
human disease
DOID:0111318
idiopathic generalized epilepsy 4 class of disease generalized epilepsy
human disease
DOID:0111319
idiopathic generalized epilepsy 5 class of disease generalized epilepsy
human disease
DOID:0111320
idiopathic generalized epilepsy 7 class of disease generalized epilepsy
human disease
DOID:0111321
idiopathic generalized epilepsy 9 class of disease generalized epilepsy
human disease
DOID:0111323
idiopathic orbital inflammatory disease
class of disease orbital granuloma chronic orbital inflammation Human disease
DOID:9369
C11.675.679
idiopathic peripheral autonomic neuropathy class of disease autonomic nervous system disease autonomic peripheral neuropathy human disease
DOID:11488
idiopathic progressive polyneuropathy class of disease polyneuropathy
human disease
DOID:10593
idiopathic pulmonary fibrosis
class of disease idiopathic interstitial pneumonia pulmonary fibrosis
chronic, irreversible and ultimately fatal disease characterized by a progressive decline in lung function
DOID:0050156
C08.381.483.487.500 C08.381.765.500
Idiopathic pulmonary fibrosis
idiopathic scoliosis class of disease scoliosis
scoliosis with no known cause
DOID:0060250
ileal neoplasm class of disease small intestine neoplasm ileal disease human disease
DOID:10156
C04.588.274.476.411.501 C06.301.371.411.501 C06.405.249.411.501 C06.405.469.420.501 C06.405.469.491.501
ileitis
class of disease Crohn's disease enteritis
inflammatory bowel disease characterized by inflammation located in ileum, has symptom diarrhea, has symptom abdominal pain, often in the right lower quadrant, has symptom weight loss
DOID:0060189
C06.405.205.462.624 C06.405.469.326.875 C06.405.469.420.520
Ileitis
ileum cancer class of disease small intestine cancer ileal neoplasm small intestine cancer that is located in the ileum
DOID:10153
ileus
class of disease bowel obstruction disease
human disease characterized by impairment of intestinal peristalsis; in modern language usually excludes mechanical bowel obstruction
DOID:8440
C06.405.469.531.492
Ileus
iliac vein thrombophlebitis class of disease thrombophlebitis
Human disease
DOID:10880
immature cataract class of disease senile cataract Human disease
DOID:10997
immature teratoma
class of disease teratoma
Human disease
DOID:5563
immature teratoma of ovary class of disease malignant ovarian germ cell neoplasm malignant non-dysgerminomatous germ cell tumor of ovary ovarian biphasic or triphasic teratoma Human disease
DOID:6331
immune disorder
class of disease disease of anatomical entity a disease of the immune system
DOID:2914
C20
Diseases and disorders of the immune system
immune system cancer class of disease organ system cancer immune disorder
organ system cancer located in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system
DOID:0060083
immune system organ benign neoplasm class of disease organ system benign neoplasm immune disorder
organ system benign neoplasm located in the immune system organs
DOID:0060092
immune-complex glomerulonephritis class of disease glomerulonephritis
Human disease
DOID:4784
immunodeficiency 11A class of disease autosomal recessive disease severe combined immunodeficiency
human disease
DOID:0111957
immunodeficiency 11B class of disease autosomal dominant disease T cell deficiency
human disease
DOID:0111958
immunodeficiency 15A class of disease autosomal dominant disease combined immunodeficiency severe combined immunodeficiency due to IKK2 deficiency human disease
DOID:0111960
immunodeficiency 15B class of disease severe combined immunodeficiency autosomal recessive disease severe combined immunodeficiency due to IKK2 deficiency human disease
DOID:0111959
immunodeficiency 18 class of disease autosomal recessive disease primary immunodeficiency disease
human disease
DOID:0111971
immunodeficiency 19 class of disease autosomal recessive disease severe combined immunodeficiency
human disease
DOID:0111972
immunodeficiency 28 class of disease autosomal recessive disease primary immunodeficiency disease
human disease
DOID:0111995
immunodeficiency 32A class of disease autosomal dominant disease dendritic cell deficiency human disease
DOID:0111986
immunodeficiency 32B class of disease monocyte, dendritic cell, and NK cell deficiency autosomal recessive disease human disease
DOID:0111985
immunodeficiency 45 class of disease autosomal recessive disease primary immunodeficiency disease primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection human disease
DOID:0111994
immunodeficiency 51 class of disease primary immunodeficiency disease autosomal recessive disease human disease
DOID:0111996
immunodeficiency 52 class of disease T cell deficiency autosomal recessive disease human disease
DOID:0111983
immunodeficiency 53 class of disease autosomal recessive disease combined immunodeficiency
human disease
DOID:0111992
immunodeficiency 55 class of disease autosomal recessive disease combined immunodeficiency
human disease
DOID:0111993
immunodeficiency 57 class of disease autosomal recessive disease primary immunodeficiency disease
human disease
DOID:0111952
immunodeficiency 58 class of disease autosomal recessive disease combined immunodeficiency
human disease
DOID:0111984
immunodeficiency 59 class of disease autosomal recessive disease B cell and dendritic cell deficiency human disease
DOID:0111974
immunodeficiency 60 class of disease combined immunodeficiency autosomal dominant disease human disease
DOID:0111954
immunodeficiency 62 class of disease autosomal recessive disease B cell deficiency human disease
DOID:0111991
immunodeficiency 63 class of disease autosomal recessive disease T cell and NK cell immunodeficiency human disease
DOID:0111997
immunodeficiency 64 class of disease T cell, B cell, and NK cell deficiency autosomal recessive disease human disease
DOID:0111980
immunodeficiency 65 class of disease primary immunodeficiency disease autosomal recessive disease human disease
DOID:0111978
immunodeficiency 66 class of disease primary immunodeficiency disease autosomal recessive disease human disease
DOID:0111998
immunodeficiency 69 class of disease autosomal recessive disease T cell and NK cell immunodeficiency human disease
DOID:0112006
immunodeficiency 70 class of disease autosomal dominant disease combined immunodeficiency
human disease
DOID:0112005
immunodeficiency 71 class of disease combined immunodeficiency autosomal recessive disease human disease
DOID:0112004
immunodeficiency 72 class of disease autosomal recessive disease combined immunodeficiency
human disease
DOID:0112015
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia class of disease autosomal dominant disease combined immunodeficiency
human disease
DOID:0112061
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia class of disease combined immunodeficiency autosomal recessive disease human disease
DOID:0112062
immunodeficiency-centromeric instability-facial anomalies syndrome class of disease autosomal recessive disease DNA repair defect other than combined T-cell and B-cell immunodeficiencies syndrome
autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases
DOID:0090007
immunoglobulin A deficiency
class of disease selective immunoglobulin deficiency disease B cell deficiency genetic disease disease
dysgammaglobulinemia characterized by a deficiency of immunoglobulin A
DOID:0060025
C15.378.147.333.500 C20.673.430.500
immunoglobulin beta deficiency class of disease B cell deficiency Human disease
DOID:0060026
imperforate anus
class of disease congenital disorder atresia anorectal anomalies anal disease congenital disorder of digestive system
DOID:10488
C06.198.050 C16.131.314.094
Imperforate anus
impulse control disorder
class of disease mental disorder disease
disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others
DOID:10937
F03.250
Habit and impulse disorders
in situ carcinoma
class of disease pre-malignant neoplasm In situ neoplasm disease
human disease
DOID:8719
C04.557.470.200.240
Carcinomas in situ
inborn errors of purine–pyrimidine metabolism
class of disease inherited metabolic disorder
inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism
DOID:653
C16.320.565.798 C18.452.648.798
inborn errors pyruvate metabolism class of disease carbohydrate metabolic disorder
human disease
DOID:3648
C16.320.565.202.810 C18.452.648.202.810
inborn metabolic brain disease class of disease metabolic brain disease Human disease
DOID:889
C10.228.140.163.100 C16.320.565.189 C18.452.132.100 C18.452.648.189
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 class of disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia autosomal dominant disease human disease
DOID:0111385
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 class of disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia autosomal dominant disease human disease
DOID:0111384
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 class of disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia autosomal dominant disease human disease
DOID:0111386
incontinentia pigmenti achromians
class of disease skin disease disease
Human disease
DOID:3156
indeterminate leprosy class of disease leprosy paucibacillary leprosy leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules
DOID:11851
indolent myeloma class of disease smouldering myeloma multiple myeloma
Human disease
DOID:9550
indolent systemic mastocytosis class of disease mastocytoma systemic mastocytosis human disease
DOID:4660
infancy electroclinical syndrome class of disease electroclinical syndrome epilepsy syndrome Epilepsy in children
electroclinical syndrome with onset in infancy occurring between birth and one year of age
DOID:0050703
infant gynecomastia class of disease breast disease gynecomastia
human disease
DOID:11603
infantile epileptic encephalopathy class of disease infancy electroclinical syndrome childhood onset epileptic encephalopathy West syndrome
Human disease
DOID:2481
C10.228.140.490.375.760 C10.228.140.490.493.875
infantile hypophosphatasia class of disease hypophosphatasia
A hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12.
DOID:0110914
infantile or early childhood epileptic encephalopathy 1 class of disease electroclinical syndrome infantile epileptic encephalopathy human disease
DOID:0080472
infantile or early childhood epileptic encephalopathy 2 class of disease electroclinical syndrome autosomal dominant disease electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has material basis in heterozygous mutation in the GABRB2 gene on chromosome 5q34
DOID:0080471
infantile osteopetrosis with neuroaxonal dysplasia class of disease neuroaxonal dystrophy osteopetrosis
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus
DOID:0070343
infantile-onset distal myopathy class of disease distal muscular dystrophy
distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development
DOID:0070196
infected hydrocele class of disease hydrocele
Human disease
DOID:9911
infectious disease
class of disease disease infection associated with diseases
disease caused by infection of pathogenic biological agents in a host organism
DOID:0050117
C01.539.221
Infectious diseases and disorders
infective endocarditis
class of disease endocarditis cardiovascular Infection infectious disease disease
endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
DOID:0060000
infective urethral stricture class of disease urethral stricture
Human disease
DOID:13658
inferior myocardial infarction class of disease myocardial infarction
Human disease
DOID:5850
C14.280.647.500.187 C14.907.585.500.187 C23.550.513.355.750.187 C23.550.717.489.750.187
inferolateral myocardial infarct class of disease myocardial infarction
Human disease
DOID:5852
infertility
class of disease symptom or sign
reproductive system disease reproductive system symptom disease
inability of a person, animal or plant to reproduce by natural means that is no intervention of contraceptive techniques
DOID:5223
C12.294.365 C13.351.500.365
Infertility
infertility due to extratesticular cause class of disease male infertility
Human disease
DOID:14096
infiltrating angiolipoma class of disease angiolipoma
Human disease
DOID:3615
infiltrating bladder lymphoepithelioma-like carcinoma class of disease invasive bladder transitional cell carcinoma human disease
DOID:7600
infiltrating bladder urothelial carcinoma sarcomatoid variant class of disease invasive bladder transitional cell carcinoma sarcomatoid transitional cell carcinoma Human disease
DOID:7553
infiltrating lipoma class of disease lipoma
Human disease
DOID:7014
infiltrating nipple syringomatous adenoma class of disease nipple neoplasm Human disease
DOID:7839
infiltrating renal pelvis transitional cell carcinoma class of disease renal pelvis transitional cell carcinoma Human disease
DOID:0050620
infiltrating ureter transitional cell carcinoma class of disease ureter transitional cell carcinoma Human disease
DOID:6845
infiltrative basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4299
inflamed seborrheic keratosis
class of disease seborrheic keratosis
Human disease
DOID:11685
inflammatory MFH class of disease malignant fibrous histiocytoma
Human disease
DOID:6192
inflammatory and toxic neuropathy class of disease peripheral neuropathy acquired peripheral neuropathy Human disease
DOID:2537
inflammatory bowel disease 1 class of disease inflammatory bowel diseases genetic disease
An inflammatory bowel disease that has material basis in mutations in the NOD2 gene on chromosome 16q12.1.
DOID:0110892
inflammatory bowel disease 11 class of disease inflammatory bowel diseases genetic disease
inflammatory bowel disease that has material basis in variation in the chromosome region 7q22
DOID:0110894
inflammatory bowel disease 12 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3
DOID:0110887
inflammatory bowel disease 13 class of disease inflammatory bowel diseases genetic disease
An inflammatory bowel disease that has material basis in variation in the ABCB1 gene on chromosome 7q21.1.
DOID:0110893
inflammatory bowel disease 15 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 10q21
DOID:0110897
inflammatory bowel disease 16 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 9q32
DOID:0110896
inflammatory bowel disease 17 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the IL23R gene on chromosome 1p31.3.
DOID:0110883
inflammatory bowel disease 18 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.
DOID:0110888
inflammatory bowel disease 2 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.
DOID:0110900
inflammatory bowel disease 20 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24
DOID:0110898
inflammatory bowel disease 21 class of disease inflammatory bowel diseases genetic disease autosomal dominant disease inflammatory bowel disease that has material basis in variation in the chromosome region 18p11
DOID:0110906
inflammatory bowel disease 22 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.
DOID:0110905
inflammatory bowel disease 23 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.
DOID:0110884
inflammatory bowel disease 24 class of disease inflammatory bowel diseases genetic disease
inflammatory bowel disease that has material basis in variation in the chromosome 20q13
DOID:0110908
inflammatory bowel disease 26 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 12q15
DOID:0110901
inflammatory bowel disease 27 class of disease inflammatory bowel diseases genetic disease monogenic disease An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3
DOID:0110902
inflammatory bowel disease 3 class of disease inflammatory bowel diseases genetic disease autosomal dominant disease An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.
DOID:0110891
inflammatory bowel disease 4 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12
DOID:0110903
inflammatory bowel disease 5 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 5q31
DOID:0110889
inflammatory bowel disease 6 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 19p13
DOID:0110907
inflammatory bowel disease 7 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 1p36
DOID:0110882
inflammatory bowel disease 8 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 16p
DOID:0110904
inflammatory bowel disease 9 class of disease inflammatory bowel diseases genetic disease monogenic disease inflammatory bowel disease that has material basis in variation in the chromosome region 3p26
DOID:0110886
inflammatory bowel diseases
class of disease intestinal disease immune disorder disease
intestinal disease characterized by inflammation located in all parts of digestive tract
DOID:0050589
C06.405.205.731 C06.405.469.432
Inflammatory bowel diseases
inflammatory breast carcinoma class of disease breast adenocarcinoma invasive breast carcinoma Human disease
DOID:6263
inflammatory diarrhea class of disease diarrhea mucositis
Human disease
DOID:0050132
inflammatory leiomyosarcoma class of disease leiomyosarcoma
Human disease
DOID:5251
inflammatory liposarcoma class of disease atypical lipomatous tumor Human disease
DOID:8233
inflammatory myofibroblastic tumour
class of disease mesenchymal cell neoplasm connective tissue benign neoplasm mesenchymal cell neoplasm that has material basis in myofibroblastic cells admixed with inflammatory cells
DOID:0050905
Inflammatory myofibroblastic tumour
inflammatory spondylopathy class of disease spondylitis
Human disease
DOID:12105
infratentorial cancer class of disease brain cancer infratentorial neoplasm brain cancer that is located in the infratentorial region
DOID:4706
infundibulocystic basal cell carcinoma class of disease basal-cell carcinoma inherited skin tumor Human disease
DOID:4279
inguinal hernia
class of disease intestinal disease disease
intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal
DOID:0060320
C23.300.707.374.875
Inguinal hernia
inherited metabolic disorder
class of disease genetic disease rare disease metabolic disease disease
class of disease including endocrine diseases, nutritional diseases and metabolic diseases
DOID:655
C16.320.565 C18.452.648
Inborn errors of metabolism
inhibited female orgasm class of disease female reproductive system disease anorgasmia female orgasm Human disease
DOID:7518 DOID:11110
inner ear cancer class of disease auricular cancer inner ear neoplasm Human disease
DOID:5102
inner ear disease class of disease ear disease
human disease
DOID:2952 DOID:4539
C09.218.568
insulinoma
class of disease pancreatic cystadenoma benign neoplasms by histologic type islet cell adenoma disease
tumor that produces too much insulin
DOID:3892
C04.557.470.035.100.852 C04.588.274.761.249.500 C04.588.322.475.249.500 C06.301.761.249.500 C06.689.667.249.500 C19.344.421.249.500
Insulinoma
integrative agnosia
class of disease agnosia apperceptive agnosia
agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole
DOID:0060143
integumentary system benign neoplasm class of disease organ system benign neoplasm integumentary system neoplasm organ system benign neoplasm located in the integumentary system organs
DOID:0060121
integumentary system cancer class of disease organ system cancer integumentary system neoplasm integumentary system disease organ system cancer that is located in the skin, hair and nails
DOID:0060122
integumentary system disease class of disease disease of anatomical entity disease of anatomical entity that is located in the integumentary system comprising the skin and its appendages
DOID:16
intellectual developmental disorder with short stature and behavioral abnormalities class of disease syndrome autosomal recessive disease syndromic intellectual disability human disease
DOID:0111674
intellectual disability
class of disease specific developmental disorder cognitive deficit disability disease
generalized neurodevelopmental disorder
DOID:1059
C23.888.592.604.646 C10.597.606.360 F01.700.687 F03.625.539
Intellectual disabilities
interdigitating dendritic cell sarcoma
class of disease histiocytic and dendritic cell cancer dendritic cell sarcoma histiocytic and dendritic cell cancer that effect dendritic cells
DOID:7848
C04.557.227.199 C15.604.250.390.199
interleukin-7 receptor alpha deficiency class of disease severe combined immunodeficiency
human disease
DOID:0060015
intermediate malignant teratoma class of disease immature teratoma
Human disease
DOID:7202
intermediate uveitis
class of disease uveitis
human disease
DOID:12732
C11.941.879.900
Intermediate uveitis
intermittent asthma class of disease chronic asthma human disease
DOID:0080812
intermittent explosive disorder
class of disease impulse control disorder disease
Mood disorder identified by frequent episodes of anger and rage
DOID:12401
intermittent proptosis class of disease orbital disease exophthalmos
Human disease
DOID:12363
intermittent squint class of disease strabismus
Human disease
DOID:1942
intermixed schwannian stroma-rich ganglioneuroblastoma class of disease ganglioneuroblastoma
Human disease
DOID:5194
internal hemorrhoid class of disease hemorrhoid
Human disease
DOID:9749
internal resorption
class of disease tooth resorption
human disease
DOID:13239
internuclear ophthalmoplegia
class of disease ophthalmoplegia strabismus
Human disease
DOID:538
interstitial keratitis
class of disease connective tissue disease deep keratitis human disease
DOID:9857
interstitial myocarditis class of disease mediastinitis myocarditis
Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.
DOID:817
interstitial nephritis
class of disease nephritis kidney disease disease
type of nephritis affecting the interstitium of the kidneys surrounding the tubules
DOID:1063
C12.200.777.419.570.643 C12.050.351.968.419.570.643 C12.950.419.570.643
Tubulointerstitial disease
interval angle-closure glaucoma class of disease primary angle-closure glaucoma Human disease
DOID:13549
intestinal atresia
class of disease intestinal disease intestinal malformation congenital disorder of digestive system
DOID:10486
C06.198.719 C06.405.469.445 C16.131.314.466
Intestinal atresia
intestinal benign neoplasm class of disease gastrointestinal system benign neoplasm intestinal neoplasm intestinal disease
gastrointestinal system benign neoplasm that is located in the intestine
DOID:4610
intestinal cancer class of disease gastrointestinal system cancer intestinal neoplasm intestinal disease
gastrointestinal system cancer that is located in the intestine
DOID:10155
Intestinal cancers
intestinal disaccharidase deficiency class of disease metabolic disease with intestinal involvement intestinal disease carbohydrate metabolic disorder
Human disease
DOID:9868
intestinal disease
class of disease gastrointestinal system disease
gastrointestinal system disease that is located in the intestine
DOID:5295
C06.405.469
Diseases and disorders of intestines
intestinal impaction class of disease bowel obstruction
Human disease
DOID:8448
intestinal neuroendocrine benign tumor class of disease intestinal benign neoplasm gastrointestinal neuroendocrine benign tumor Human disease
DOID:4119
intestinal perforation class of disease intestinal disease gastrointestinal perforation
Human disease
DOID:2074
C06.405.469.557
intestinal tuberculosis class of disease gastrointestinal tuberculosis intestinal disease
human disease
DOID:13282
intestinal variant cervical mucinous adenocarcinoma class of disease cervical mucinous adenocarcinoma intestinal type carcinoma Human disease
DOID:8339
intestinal volvulus
class of disease bowel obstruction disease
Human disease
DOID:8445
C06.405.469.531.568 C23.300.970.500
Volvulus
intestine carcinoma in situ class of disease carcinoma in situ of digestive organ in situ carcinoma intestinal disease
Human disease
DOID:9024
intra-abdominal lymph node mast cell malignancy class of disease lymph node cancer mast cell malignancy of lymph nodes mastocytoma
Human disease
DOID:13005
intracerebral cystic meningioma class of disease cerebral meningioma Human disease
DOID:6113
intracortical osteogenic sarcoma class of disease conventional central osteosarcoma Human disease
DOID:7602
intracranial abscess class of disease central nervous system disease abscess
central nervous system disease that is located in the skull and is characterized by a collection of pus (infected material) inside the skull
DOID:10095
intracranial aneurysm
class of disease aneurysm cerebrovascular disease cerebral arterial disease disease
cerebrovascular disorder
DOID:10941
C10.228.140.300.510.600 C14.907.055.635 C14.907.253.560.300
Cerebral aneurysms
intracranial arterial disease class of disease cerebrovascular disease
human disease
DOID:13089
C10.228.140.300.510 C14.907.253.560
intracranial arteriosclerosis class of disease arteriosclerosis
human disease
DOID:13097
C10.228.140.300.510.800 C14.907.137.126.372 C14.907.253.560.350
intracranial berry aneurysm
class of disease intracranial aneurysm
intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm
DOID:0060228
intracranial berry aneurysm 11 class of disease intracranial berry aneurysm
human disease
DOID:0080974
intracranial berry aneurysm 9 class of disease intracranial berry aneurysm
human disease
DOID:0080972
intracranial cavernous angioma class of disease intracranial structure hemangioma Human disease
DOID:2516
intracranial chondrosarcoma class of disease extraosseous chondrosarcoma extraskeletal myxoid chondrosarcoma intracranial tumor Human disease
DOID:7903
intracranial embolism class of disease cerebrovascular disease disease
Human disease
DOID:4372
C10.228.140.300.525.400 C14.907.253.566.300 C14.907.355.590.213.300
Intracranial embolism
intracranial liposarcoma class of disease liposarcoma
Human disease
DOID:5714
intracranial primitive neuroectodermal tumor class of disease central nervous system primitive neuroectodermal neoplasm medulloblastoma
Human disease
DOID:4788
intracranial structure hemangioma class of disease hemangioma intracranial tumor Human disease
DOID:2517
intracranial thrombosis class of disease thrombosis cerebrovascular disease thromboembolism
Human disease
DOID:4193
C10.228.140.300.525.425 C14.907.253.566.350 C14.907.355.590.213.350
intracranial vasospasm
class of disease vasospasm cerebrovascular disease disease
Human disease
DOID:13100
C10.228.140.300.900 C14.907.253.951
intracystic papillary adenoma class of disease adenoma
Human disease
DOID:2682
intraductal breast myoepitheliosis class of disease breast myoepitheliosis Human disease
DOID:8068
intraductal breast neoplasm class of disease breast benign neoplasm Human disease
DOID:3013
intraductal carcinoma
class of disease breast carcinoma in situ breast ductal carcinoma disease
Human disease
DOID:0060074
C04.557.470.200.025.275 C04.557.470.200.240.187.250 C04.557.470.615.275
Ductal carcinoma in situ
intraductal papillary breast neoplasm class of disease intraductal breast neoplasm Human disease
DOID:1628
intraductal papilloma
class of disease breast benign neoplasm papilloma intraductal breast neoplasm disease
human disease
DOID:1627
C04.557.470.615.670
Intraductal papilloma
intrahepatic bile duct adenoma class of disease bile duct adenoma Human disease
DOID:5437
intrahepatic bile duct cystadenoma class of disease bile duct cystadenoma intrahepatic bile duct adenoma Human disease
DOID:6733
intrahepatic biliary papillomatosis class of disease biliary papillomatosis
Human disease
DOID:8230
intrahepatic cholangiocarcinoma class of disease cholangiocarcinoma
Human disease
DOID:4928
intrahepatic cholestasis class of disease cholestasis
medical condition
DOID:1852
C06.130.120.135.250 C06.552.150
intrahepatic cholestasis of pregnancy
class of disease intrahepatic cholestasis liver disease of pregnancy disease
intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery
DOID:0070227
intrahepatic gall duct cancer class of disease gallbladder cancer
Human disease
DOID:12298
intramuscular hemangioma class of disease hemangioma muscle neoplasm Human disease
DOID:468
intraneural perineurioma
class of disease perineurioma Human disease
DOID:4696
intraocular lymphoma
class of disease eye lymphoma human disease
DOID:775
C04.557.386.435 C04.588.364.447 C15.604.515.569.417 C20.683.515.761.417
intraorbital meningioma class of disease orbital cancer meningioma
meningioma by site and orbital neoplasm that is located in the area around the eye sockets of the skull and results in pressure in the eyes, giving a bulging appearance
DOID:4141
intrapelvic lymph node leukemic reticuloendotheliosis class of disease lymph node cancer Human disease
DOID:12972
intratubular embryonal carcinoma class of disease embryonal testis carcinoma embryonal testis carcinoma that is located within a tubule
DOID:8275
intravascular angioleiomyoma class of disease angiomyoma vascular neoplasm
Human disease
DOID:4266
intravascular fasciitis class of disease pseudosarcomatous fibromatosis
Human disease
DOID:9603
intravenous leiomyomatosis
class of disease leiomyomatosis vascular disease
Human disease
DOID:5729
intraventricular meningioma class of disease cerebral ventricle cancer meningioma
Human disease
DOID:3772
intrinsic asthma class of disease asthma chronic asthma human disease
DOID:9360
intussusception
class of disease bowel obstruction genetic disease disease
human disease
DOID:8446
C06.405.469.531.577
Intussusception
invasive bladder transitional cell carcinoma class of disease bladder urothelial carcinoma Invasive urothelial carcinoma
Human disease
DOID:6477
invasive lobular carcinoma
class of disease breast lobular carcinoma invasive breast carcinoma carcinoma breast cancer disease
Human disease
DOID:3457
Histopathology of invasive lobular carcinoma (ILC)
invasive malignant thymoma class of disease thymoma
Human disease
DOID:3283
invasive tubular breast carcinoma class of disease breast adenocarcinoma invasive ductal carcinoma
Human disease
DOID:6587
inverted follicular keratosis
class of disease seborrheic keratosis
Human disease
DOID:6945
Inverted follicular keratosis
inverted papilloma
class of disease papilloma
Human disease
DOID:3179
C04.557.470.700.600.610
Inverted papillomas
inverted transitional papilloma class of disease transitional papilloma inverted papilloma
Human disease
DOID:4630
iodine hypothyroidism class of disease hypothyroidism
Human disease
DOID:5083
iris cancer class of disease iris neoplasm uveal cancer iris disease Human disease
DOID:3478
iris disease class of disease uveal disease Human disease
DOID:240 DOID:4738
C11.941.375
iritis class of disease iris disease anterior uveitis disease
human disease
DOID:1406
C11.941.375.385 C11.941.879.780.880.448
iron deficiency anemia
class of disease symptom or sign
deficiency anemia nutritional deficiency disease iron deficiency hypochromic anemia disease
anemia caused by a lack of iron
DOID:11758
C15.378.071.196.300 C18.452.565.100
Iron-deficiency anemia
iron metabolism disease
class of disease mineral metabolism disease Human disease
DOID:2351
C18.452.565
irregular astigmatism class of disease astigmatism
Human disease
DOID:13919
irritable bowel syndrome
class of disease symptom or sign
functional colonic disease syndrome intestinal disease disease
syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause
DOID:9778
C06.405.469.158.272.608
Irritable bowel syndrome
irritant dermatitis
class of disease contact dermatitis
human disease
DOID:2772
C17.800.174.255.400 C17.800.815.255.400
Irritant contact dermatitis
ischemic bone disease class of disease bone disease ischemia
bone disease that results in an interruption of blood supply located in bone
DOID:0080008
ischemic colitis
class of disease colitis
colitis caused by inadequate blood supply to the colon
DOID:0060181
C06.405.205.265.115 C06.405.469.158.188.115 C14.907.286
Ischemic colitis
ischemic fasciitis
class of disease fasciitis
human disease
DOID:9601
Ischemic fasciitis
ischemic neuropathy class of disease peripheral neuropathy
Human disease
DOID:1195
islet cell carcinoma
class of disease islet cell tumor gastrointestinal carcinoma disease
islet cell tumor that has material basis in epithelial cells
DOID:1798
C04.557.470.200.025.290 C04.588.274.761.500 C04.588.322.475.500 C06.301.761.500 C06.689.667.500 C19.344.421.500
Pancreatic neuroendocrine tumors
islet cell tumor class of disease pancreatic cancer
pancreatic cancer that is located in the pancreatic islet cells
DOID:1799
isocyanates allergic asthma class of disease allergic asthma occupational asthma
allergic asthma that has allergic trigger isocyanates
DOID:0040041
isolated cryptophthalmia class of disease cryptophthalmos
human disease
DOID:0111717
isolated ectopia lentis class of disease lens disease ectopia lentis
A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
DOID:0111148
isolated growth hormone deficiency type IA class of disease isolated growth hormone deficiency
human disease
DOID:0060873
isolated growth hormone deficiency type IB class of disease isolated growth hormone deficiency
human disease
DOID:0060874
isolated growth hormone deficiency type II class of disease isolated growth hormone deficiency
human disease
DOID:0060872
isolated growth hormone deficiency type III class of disease isolated growth hormone deficiency X-linked recessive disease An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material basis in mutation in the BTK gene on chromosome Xq22.1.
DOID:0060875
isolated microphthalmia class of disease microphthalmia
microphthalmia that is not part of a larger syndrome
DOID:0080637
isolated microphthalmia 1 class of disease microphthalmia genetic disease isolated microphthalmia autosomal recessive disease microphthalmia that has material basis in variation in the chromosomal region 14q32
DOID:0060840
isoniazide allergy class of disease drug allergy
drug allergy that has allergic trigger isoniazide
DOID:0040008
isthmicoma
class of disease hair follicle neoplasm Human disease
DOID:8426
Isthmicoma
isthmus cancer class of disease uterine corpus cancer Human disease
DOID:9459
jaw cancer class of disease bone cancer neoplasm of jaw bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone
DOID:1862
jaw-winking syndrome
class of disease cranial nerve disease ptosis genetic peripheral neuropathy autosomal dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid
DOID:560
Marcus Gunn phenomenon
jejunal adenocarcinoma class of disease jejunal cancer adenocarcinoma
jejunal cancer that is located in the jejunum and has material basis in epithelial tissue that has glandular origin
DOID:0050926
jejunal cancer class of disease small intestine cancer jejunal neoplasm human disease
DOID:13499
jejunal neoplasm class of disease small intestine neoplasm jejunal disease human disease
DOID:3218
C04.588.274.476.411.523 C06.301.371.411.523 C06.405.249.411.523 C06.405.469.491.523 C06.405.469.600.523
jejunal somatostatinoma class of disease jejunal cancer Human disease
DOID:3216
junctional epidermolysis bullosa Herlitz type class of disease junctional epidermolysis bullosa genetic disease autosomal recessive disease Human disease
DOID:0060737
juvenile absence epilepsy class of disease adolescence-adult electroclinical syndrome adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures
DOID:0060172
juvenile absence epilepsy 1 class of disease juvenile absence epilepsy human disease
DOID:0111324
juvenile amyotrophic lateral sclerosis with dementia class of disease amyotrophic lateral sclerosis juvenile amyotrophic lateral sclerosis juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia
DOID:0110067
juvenile ankylosing spondylitis class of disease autoimmune disease of musculoskeletal system ankylosing spondylitis
autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood
DOID:0040092
juvenile astrocytoma class of disease astrocytoma childhood cancer
Human disease
DOID:3079
juvenile dermatitis herpetiformis class of disease dermatitis herpetiformis
Human disease
DOID:8507
juvenile glaucoma class of disease autosomal dominant disease primary open angle glaucoma Human disease
DOID:1068
juvenile myelomonocytic leukemia
class of disease myelodysplastic/myeloproliferative neoplasm monocytic leukemia childhood leukemia
Human disease
DOID:0050458
C04.557.337.539.525 C15.378.190.615.520
juvenile myoclonic epilepsy
class of disease adolescence-adult electroclinical syndrome Idiopathic generalized epilepsy myoclonic epilepsy
adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years
DOID:4890
C10.228.140.490.493.063.670 C10.228.140.490.375.130.670
juvenile myoclonic epilepsy 10 class of disease juvenile myoclonic epilepsy
human disease
DOID:0111325
juvenile myoclonic epilepsy 3 class of disease juvenile myoclonic epilepsy
human disease
DOID:0111326
juvenile myoclonic epilepsy 4 class of disease juvenile myoclonic epilepsy
human disease
DOID:0111327
juvenile myoclonic epilepsy 9 class of disease juvenile myoclonic epilepsy
human disease
DOID:0111328
juvenile pilocytic astrocytoma class of disease childhood pilocytic astrocytoma pilocytic astrocytoma
Human disease
DOID:6811
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome class of disease autosomal dominant disease syndrome juvenile polyposis syndrome hereditary hemorrhagic telangiectasia
human disease
DOID:0111543
juvenile type testicular granulosa cell tumor class of disease testicular granulosa cell tumor Human disease
DOID:6032
juvenile xanthogranuloma
class of disease non-Langerhans-cell histiocytosis histiocytosis xanthogranuloma Human disease
DOID:4424
C15.604.250.410.900 C17.800.973
Juvenile xanthogranuloma
juvenile-onset Parkinson disease class of disease Parkinson's disease young-onset Parkinson disease human disease
DOID:0060893
juxtacortical chondroma class of disease chondroma
Human disease
DOID:2601
juxtacortical chondrosarcoma class of disease chondrosarcoma
human disease
DOID:5866
juxtacortical osteosarcoma class of disease peripheral osteosarcoma Human disease
DOID:3373
C04.557.450.565.575.650.655 C04.557.450.795.620.655
keratinizing squamous cell carcinoma class of disease squamous cell carcinoma
squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris
DOID:5521
keratitis
class of disease symptom or sign
corneal disease eye inflammation inflammatory disease cornea symptom disease
corneal disease that is characterized by inflammation of the cornea.
DOID:4677
C11.204.564
Keratitis
keratoacanthoma
class of disease cutaneous squamous-cell carcinoma disease
Human disease
DOID:3149
C17.800.417
Keratoacanthoma
keratoconjunctivitis
class of disease keratitis conjunctivitis eye disease
inflammation ("-itis") of the cornea and conjunctiva.
DOID:9368
C11.187.183.394 C11.204.564.585
Keratoconjunctivitis
keratoconjunctivitis sicca
class of disease dry eye syndrome keratoconjunctivitis disease
condition of having dry eyes
DOID:12895
C11.187.183.394.550 C11.204.564.585.630 C11.496.260.394
Dry eye syndrome
keratomalacia
class of disease corneal degeneration vitamin A deficiency keratitis related to vitamin deficiency disease
Human disease
DOID:11267
keratopathy class of disease corneal disease Human disease
DOID:2283
keratosis
class of disease skin disease keratoma disease
skin disease characterized by growth of keratin on the skin or mucous membranes
DOID:161
C17.800.428
keratosis follicularis spinulosa decalvans, autosomal dominant class of disease keratosis follicularis spinulosa decalvans
human disease
DOID:0080755
keratosis pilaris atrophicans faciei
class of disease keratosis pilaris atropicans
human disease
DOID:0080752
keratosis pilaris atropicans
class of disease keratosis pilaris autosomal recessive disease ichthyosis
human disease
DOID:0080751
kernicterus
class of disease symptom or sign
encephalopathy neurometabolic disease neonatal jaundice disease
congenital disorder of nervous system
DOID:2382
C10.228.140.163.480 C15.378.295.502 C16.614.304.502 C18.452.132.480 C20.306.502 C23.550.429.750
Kernicterus
kernicterus due to isoimmunization class of disease neonatal jaundice kernicterus
Human disease
DOID:12043
ketoprofen photoallergic dermatitis class of disease photodermatitis drug allergy
photoallergic dermatitis that has allergic trigger ketoprofen
DOID:0040060
kidney angiomyolipoma class of disease kidney benign neoplasm angiomyolipoma benign perivascular tumor angiomyolipoma arising from the kidney
DOID:8411
Renal angiomyolipoma
kidney benign neoplasm class of disease urinary system benign neoplasm kidney neoplasm kidney disease lipoma
A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.
DOID:3116
kidney cancer
class of disease urinary system cancer kidney neoplasm kidney disease disease
urinary system cancer that is located in the kidney
DOID:263
Cancers of kidney
kidney carcinoma in situ class of disease kidney disease in situ carcinoma
Human disease
DOID:9234
kidney clear cell sarcoma
class of disease kidney cancer kidney sarcoma inherited renal tumor clear-cell sarcoma
kidney sarcoma that has material basis in clear cells that are characterized as cells that look clear when viewed under a microscope
DOID:4880
kidney cortex disease class of disease kidney disease
human disease
DOID:0080616
kidney failure
class of disease symptom or sign
kidney disease impaired renal function disease chronic renal disease urological symptom disease
disease where the kidneys fail to adequately filter waste products from the blood
DOID:1074
C12.777.419.780 C13.351.968.419.780
kidney fibrosarcoma class of disease kidney sarcoma fibrosarcoma
Human disease
DOID:5982
kidney hemangiopericytoma class of disease kidney cancer
kidney cancer which is manifested in the kidney
DOID:262
kidney hypertrophy class of disease kidney disease
Global enlargement of the renal parenchyma in one or both kidneys
DOID:9622
kidney infection class of disease infection kidney disease infectious disease
type of infection that afflicts the kidneys
DOID:782
kidney leiomyosarcoma class of disease kidney sarcoma leiomyosarcoma and sarcoma of kidney that is located in the kidney
DOID:5287
kidney lipoma class of disease kidney benign neoplasm Human disease
DOID:10194
kidney liposarcoma class of disease liposarcoma kidney sarcoma kidney cancer
liposarcoma that is located in the kidney
DOID:5699
kidney osteogenic sarcoma class of disease kidney sarcoma extraosseous osteosarcoma kidney sarcoma that starts in the bones and that is located in the kidney
DOID:5983
kidney papillary necrosis
class of disease kidney disease disease
Human disease
DOID:2981
C12.777.419.493 C13.351.968.419.493
kidney pelvis papillary carcinoma class of disease renal pelvis transitional cell carcinoma renal pelvis papillary tumor papillary transitional carcinoma Human disease
DOID:5973
kidney pelvis sarcomatoid transitional cell carcinoma class of disease sarcomatoid transitional cell carcinoma transitional cell carcinoma renal pelvis carcinoma Human disease
DOID:6844
kidney rhabdoid cancer class of disease rhabdoid tumor kidney sarcoma embryonal cancer that is located in the kidney
DOID:3674
kidney sarcoma class of disease kidney cancer sarcoma
kidney cancer that is located in the kidney's connective tissue
DOID:4242
klebsiellosis
class of disease bacterial pneumonia Enterobacteriaceae infectious disease infection by Klebsiella bacteria
DOID:13272
C01.150.252.400.310.503
kleptomania
class of disease impulse control disorder disease
inability to resist the urge to steal
DOID:12400
Kleptomania
kwashiorkor
class of disease protein-energy malnutrition disease dystrophy protein deficiency Human disease
DOID:13579
C18.654.521.719.500
Kwashiorkor
kyphoscoliotic heart disease class of disease chronic pulmonary heart disease Human disease
DOID:12325
labia majora carcinoma class of disease vulva carcinoma skin cancer
Human disease
DOID:13389
labia minora cancer class of disease vulvar cancer skin cancer
Human disease
DOID:1243
labia minora carcinoma class of disease vulva carcinoma Human disease
DOID:1293
labium majus cancer class of disease vulvar cancer
Human disease
DOID:11905
labyrinthine bilateral reactive loss class of disease labyrinthine dysfunction Human disease
DOID:14413
labyrinthine unilateral reactive loss class of disease labyrinthine dysfunction Human disease
DOID:1776
labyrinthitis
class of disease otitis interna inner ear disease labyrinthosis disease
inflammation of the labyrinth, fluid-filled channels in the inner ear
DOID:1468
C09.218.568.558 C09.218.705.371
lacrimal apparatus disease class of disease eye disease eye adnexa disease rare palpebral, lacrimal system and conjunctival disease rare genetic palpebral, lacrimal system and conjunctival disease human disease
DOID:1400
C11.496
lacrimal duct cancer class of disease lacrimal system cancer Human disease
DOID:12756
lacrimal duct obstruction
class of disease lacrimal apparatus disease stenosis and insufficiency of lacrimal passage Human disease
DOID:13929
C11.496.456
Nasolacrimal duct obstruction
lacrimal gland adenocarcinoma class of disease lacrimal gland carcinoma adenocarcinoma
human disease
DOID:298
lacrimal gland cancer class of disease lacrimal system cancer lacrimal gland neoplasm human disease
DOID:294
lacrimal gland carcinoma class of disease lacrimal gland cancer carcinoma
Human disease
DOID:293
lacrimal passage granuloma class of disease lacrimal apparatus disease Human disease
DOID:10174
lacrimal system cancer class of disease ocular cancer lacrimal apparatus disease human disease
DOID:292
lactic acidosis
class of disease acidosis metabolic acidosis disease
acquired metabolic condition that has material basis in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate
DOID:3650
C18.452.076.176.180
Lactic acidosis
lactose intolerance
class of disease carbohydrate metabolic disorder malabsorption food intolerance disease
condition involving a decreased ability to digest lactose due to a lack of lactase in the small intestines, either genetically or from injury
DOID:10604
C06.405.469.637.506 C16.320.565.202.589 C18.452.603.506 C18.452.648.202.589
Lactose intolerance
lambda 5 deficiency class of disease B cell deficiency genetic disease monogenic disease A B cell deficiency that has material basis in mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
DOID:0060024
language disorder
class of disease communication disorder
range of neurodevelopmental conditions
DOID:93
C10.597.606.150.500 C23.888.592.604.150.500
large bowel leiomyoma class of disease intestinal benign neoplasm leiomyoma benign neoplasm of large intestine Human disease
DOID:5143
large cell carcinoma class of disease carcinoma
carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm
DOID:4552
C04.557.470.200.260
large cell carcinoma with rhabdoid phenotype class of disease large-cell lung carcinoma
Human disease
DOID:7480
large cell keratinizing variant squamous cell breast carcinoma class of disease breast squamous cell carcinoma keratinizing squamous cell carcinoma Human disease
DOID:7461
large cell medulloblastoma class of disease medulloblastoma
medulloblastoma that is characterized by cells that are larger than would be normally expected
DOID:3857
large cell neuroendocrine carcinoma class of disease large cell carcinoma neuroendocrine carcinoma large-cell lung carcinoma
Human disease
DOID:0050872
Large cell neuroendocrine carcinoma
large cell neuroendocrine carcinoma of the lung
class of disease large cell neuroendocrine carcinoma large-cell lung carcinoma pulmonary neuroendocrine tumor
human disease
DOID:6658
large intestine adenocarcinoma class of disease large intestine cancer adenocarcinoma
large intestine cancer that has material basis in epithelial cells of glandular origin
DOID:0050913
large intestine adenoma class of disease intestinal benign neoplasm gastrointestinal adenoma benign neoplasms by histologic type intestinal benign neoplasm that has material basis in epithelial tissue with glandular origin and is located in the large intestine
DOID:0050914
large intestine cancer class of disease intestinal cancer colorectal neoplasm intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other
DOID:5672
large intestine lipoma class of disease intestinal benign neoplasm lipoma benign neoplasm of large intestine Human disease
DOID:6460
large-cell acanthoma
class of disease acanthoma
Human disease
DOID:4321
large-cell lung carcinoma
class of disease non-small-cell lung carcinoma large cell carcinoma disease
Disease
DOID:4556
Large-cell lung carcinoma
large-cell lymphoma
class of disease lymphatic system cancer non-Hodgkin lymphoma
Human disease
DOID:8538
laryngeal adenoid cystic carcinoma class of disease laryngeal carcinoma Human disease
DOID:4869
laryngeal cancer
class of disease head and neck cancer carcinoma laryngeal neoplasm respiratory system cancer disease
respiratory system cancer that is located in the larynx
DOID:2596
Laryngeal cancer
laryngeal carcinoma class of disease laryngeal cancer carcinoma
larynx cancer that has material basis in epithelial cells
DOID:2600
laryngeal cartilage cancer class of disease laryngeal cancer
Human disease
DOID:13348
laryngeal disease class of disease upper respiratory tract disease human disease
DOID:786
C08.360 C09.400
laryngeal mucoepidermoid carcinoma class of disease mucoepidermoid carcinoma laryngeal cancer
Human disease
DOID:4688
laryngeal neoplasm class of disease respiratory tract neoplasm laryngeal disease neoplasm respiratory system benign neoplasm human disease
DOID:2598
C04.588.443.665.481 C08.360.369 C08.785.481 C09.400.369 C09.647.481
Neoplasms of larynx
laryngitis
class of disease symptom or sign
laryngeal disease inflammatory disease throat symptom disease
inflammation of the larynx
DOID:3437
C08.360.535 C08.730.368 C09.400.535 C01.748.368
Laryngitis
laryngostenosis class of disease laryngeal disease Human disease
DOID:11527
C08.360.591 C09.400.591 C16.131.740.658
laryngotracheitis class of disease symptom or sign
upper respiratory tract disease throat symptom human disease
DOID:0050148
larynx carcinoma in situ class of disease laryngeal disease in situ carcinoma
Human disease
DOID:9011
larynx leiomyoma class of disease laryngeal neoplasm leiomyoma
Human disease
DOID:10070
larynx leiomyosarcoma class of disease leiomyosarcoma
larynx sarcoma that is a smooth muscle connective tissue tymor located in the larynx
DOID:5288
larynx liposarcoma class of disease liposarcoma laryngeal cancer
liposarcoma that is located in the larynx
DOID:5696
larynx sarcoma class of disease laryngeal cancer sarcoma
larynx cancer that has material basis in abnormally proliferating cells derived from embryonic mesoderm
DOID:2877
larynx squamous papilloma class of disease laryngeal neoplasm squamous cell papilloma laryngeal papillomatosis
Human disease
DOID:10071
late congenital syphilis class of disease congenital syphilis
Human disease
DOID:10039
late yaws class of disease yaws
yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis
DOID:10567
late-adult onset retinitis pigmentosa class of disease retinitis pigmentosa autosomal recessive disease retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life
DOID:0110421
lateral cystocele class of disease pelvic organ prolapse cystocele
Human disease
DOID:14130
lateral displacement of eye class of disease orbital disease exophthalmos
Human disease
DOID:12360
lateral medullary syndrome
class of disease brain stem infarction neurological disorder causing a range of symptoms due to ischemia in the lateral part of the medulla oblongata in the brainstem
DOID:3522
C10.228.140.300.150.477.100.500 C10.228.140.300.775.200.100.500 C14.907.253.092.477.100.500 C14.907.253.855.200.100.500 C23.550.513.355.250.100.500 C23.550.717.489.250.100.500
Lateral medullary syndrome
lateral myocardial infarction class of disease myocardial infarction
Human disease
DOID:5853
lateral sinus thrombosis class of disease cerebral venous sinus thrombosis
Human disease
DOID:3574
C10.228.140.300.525.425.500.562 C14.907.253.566.350.500.562 C14.907.355.590.213.350.500.562
lateral ventricle meningioma class of disease intraventricular meningioma cerebral meningioma cerebral ventricle cancer Human disease
DOID:6115
latex allergy
class of disease allergy hazard disease
hypersensitivity reaction type I disease triggered by latex
DOID:0060532
C20.543.600
learning disability
class of disease specific developmental disorder disability disease
range of neurodevelopmental conditions
DOID:8927
C10.597.606.150.550 C23.888.592.604.150.550 F03.625.562 F03.625.374.188
Learning disabilities
leech infestation
class of disease ectoparasitism disease
human disease
DOID:11079
leg dermatosis class of disease skin disease
Human disease
DOID:3142
C17.800.446
legionellosis class of disease primary bacterial infectious disease Human disease
DOID:10458
C01.150.252.400.500 C08.730.382 C01.748.382
legume allergy class of disease fruit allergy
human disease
DOID:0060904
leiomyoma
class of disease benign neoplasms by histologic type smooth muscle tumour myoma disease
cell type benign neoplasm that is a benign tumor of smooth muscle cells
DOID:127
C04.557.450.590.450
Leiomyomas
leiomyoma cutis class of disease dermis tumor skin benign neoplasm leiomyoma
benign tumor that arises from smooth muscle tissue in a hair follicle, forming a papule
DOID:5132
Cutaneous leiomyoma
leiomyomatosis class of disease leiomyoma
Human disease
DOID:5138
C04.557.450.590.450.465
leiomyosarcoma
class of disease smooth muscle cancer disease
malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis
DOID:1967
C04.557.450.590.455 C04.557.450.795.455
Leiomyosarcoma
lens disease class of disease eye disease
Human disease
DOID:110
C11.510
lens subluxation class of disease lens disease Human disease
DOID:11364
C11.510.598
lens-induced iridocyclitis class of disease iridocyclitis Human disease
DOID:9388
leptomeninges sarcoma class of disease malignant leptomeningeal tumor meninges sarcoma sarcoma
Human disease
DOID:7689
lesion of sciatic nerve class of disease mononeuritis of lower limb Human disease
DOID:12528
lethal congenital contracture syndrome 1
class of disease lethal congenital contracture syndrome genetic disease
lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34
DOID:0060559
leucine-sensitive hypoglycemia of infancy class of disease amino acid metabolic disorder autosomal dominant disease human disease
DOID:0112262
leukemia
class of disease symptom or sign
hematologic cancer myeloproliferative disorders disease
group of cancers that usually begin in the bone marrow
DOID:1240
C04.557.337
Leukemias
leukocoria
class of disease pupil disorder eye degenerative disease abnormal white reflection from the retina of the eye
DOID:11772
Leukocoria
leukocyte adhesion deficiency 2 class of disease leukocyte adhesion deficiency 3 leukocyte adhesion deficiency that is characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit
DOID:0080492
leukocyte disease class of disease symptom or sign
hematopoietic system disease
disease involving the leukocyte
DOID:9500
C15.378.553
Leukocyte disorders
leukodystrophy
class of disease cerebral degeneration disease
cerebral degeneration characterized by dysfunction of the white matter of the brain
DOID:10579
Leukodystrophies
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome class of disease nervous system heredodegenerative disease combined oxidative phosphorylation deficiency autosomal recessive disease human disease
DOID:0111493
leukopenia
class of disease symptom or sign
leukocyte disease cytopenia hemic system symptom disease
decrease in the number of white blood cells
DOID:615
C15.378.553.546
leukoplakia of penis class of disease penile disease leukoplakia
Human disease
DOID:8738
leukoplakia of vagina class of disease vaginal disease leukoplakia
Human disease
DOID:8920
leukorrhea
class of disease vaginal discharge disease
type of vaginal discharge
DOID:3766
C13.351.500.894.700.500
leukostasis
class of disease leukocyte disease leukocytosis
human disease
DOID:12986
C15.378.553.560
lichen disease class of disease skin disease lichenoid eruption
Human disease
DOID:8574
lichen nitidus
class of disease lichen disease Human disease
DOID:8573
C17.800.859.475.545
Lichen nitidus
lichen planus
class of disease lichen disease disease
chronic disease of skin, tongue or oral mucosa
DOID:9201
C17.800.859.475.560
Lichen planus
lidocaine allergy class of disease drug allergy
drug allergy that has allergic trigger lidocaine
DOID:0040009
limb ischemia class of disease ischemia
Human disease
DOID:0050852
Limb ischemia
limb-girdle muscular dystrophy
class of disease muscular dystrophy progressive muscular dystrophy disease
muscular dystrophy characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles
DOID:11724
C05.651.534.500.280 C10.668.491.175.500.149 C16.320.577.280
limbic encephalitis
class of disease paraneoplastic neurologic syndrome encephalitis inflammatory and autoimmune disease with epilepsy autoimmune disease of the nervous system Inflammation involving the limbic system in the brain
DOID:0080741
C04.588.614.550.450 C04.730.856.437 C10.228.140.430.525 C10.228.228.245.700 C10.574.781.550
limited scleroderma class of disease systemic scleroderma
the least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk
DOID:1577
C17.300.799.801 C17.800.784.801
linear skin defects with multiple congenital anomalies 1 class of disease microphthalmia–dermal aplasia–sclerocornea syndrome X-linked dominant disease congenital disorder
human disease
DOID:0111808
lingual goiter class of disease goiter
Human disease
DOID:13196
C16.131.894.500.500 C19.874.283.802 C19.874.689.500.500
lingual-facial-buccal dyskinesia class of disease movement disorders
Human disease
DOID:9854
linitis plastica
class of disease gastric diffuse adenocarcinoma stomach carcinoma disease
Human disease
DOID:4023
C04.557.470.200.025.095.410
Linitis plastica
lip disease class of disease mouth disease
human disease
DOID:9297
C07.465.409
Lip disorders
lipid metabolism disorder
class of disease inherited metabolic disorder disease
high cholesterol & lipids
DOID:3146
C18.452.584
Dyslipidemia
lipid storage disease
class of disease lysosomal storage disease disease
lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues
DOID:9455
C16.320.565.398.641 C18.452.584.563.641 C18.452.648.398.641
Lipid storage disorders
lipid-cell variant infiltrating bladder urothelial carcinoma class of disease invasive bladder transitional cell carcinoma Human disease
DOID:7967
lipid-rich breast carcinoma class of disease lipid-rich carcinoma bilateral breast cancer lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells
DOID:7076
lipid-rich carcinoma class of disease breast carcinoma breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids
DOID:5658
lipoadenoma
class of disease adenoma
adenoma that is composed of adipose tissue
DOID:5398
lipoatrophic diabetes
class of disease type 2 diabetes
type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes
DOID:11712
C18.452.394.750.149.500 C19.246.300.500
lipoid nephrosis
class of disease idiopathic nephrotic syndrome nephrotic syndrome disease
Human disease
DOID:10966
C12.777.419.630.477 C13.351.968.419.630.477
Minimal change disease
lipoma
class of disease benign neoplasms by histologic type adipose tissue neoplasm disease
benign tumor made of fat tissue
DOID:3315
C04.557.450.550.400
Lipomas
lipoma of colon class of disease large intestine lipoma colonic disease Human disease
DOID:10655
lipoma of spermatic cord class of disease paratesticular lipoma lipoma male reproductive organ benign neoplasm Human disease
DOID:10206
lipoma of the rectum class of disease large intestine lipoma benign neoplasm of rectum Human disease
DOID:6459
lipomatosis
class of disease skin disease
Human disease
DOID:3153
C17.800.463 C18.452.584.718
Lipomatosis
liposarcoma
class of disease lipomatous cancer sarcoma disease
lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum
DOID:3382
C04.557.450.550.420 C04.557.450.795.465
Liposarcoma
liposarcoma of bone class of disease osteosarcoma
Human disease
DOID:3381
liposarcoma of the ovary class of disease ovary sarcoma liposarcoma sarcoma ovarian cancer
Human disease
DOID:5697
lissencephaly 3 class of disease autosomal dominant disease lissencephaly
human disease
DOID:0112232
liver angiosarcoma
class of disease angiosarcoma liver cancer hepatic vascular disease liver sarcoma organ type angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located in the liver
DOID:268
Liver angiosarcoma
liver cancer
class of disease liver tumor liver disease rare hepatic and biliary tract tumor liver neoplasm hepatobiliary system cancer endocrine gland cancer disease
human disease
DOID:3571
Liver cancer
liver carcinoma class of disease liver cancer carcinoma
liver cancer that has material basis in epithelial cells
DOID:686
liver carcinoma in situ class of disease in situ carcinoma liver disease
Human disease
DOID:9132
liver cirrhosis
class of disease liver disease cirrosis disease
chronic disease of the liver, characterized by fibrosis
DOID:5082
C06.552.630 C23.550.355.412
Cirrhosis
liver disease
class of disease hepatobiliary disease endocrine system disease disease
disorder of the human liver
DOID:409
C06.552
Diseases and disorders of liver
liver fibroma class of disease liver neoplasm fibroma
Human disease
DOID:907
liver fibrosarcoma class of disease liver sarcoma fibrosarcoma
fibrosarcoma of soft tissue and sarcoma of liver that is located in the liver
DOID:8022
liver inflammatory pseudotumor class of disease Inflammatory pseudotumor inflammatory myofibroblastic tumour rare hepatic disease liver neoplasm rare hepatic and biliary tract tumor endocrine gland cancer liver disease
Human disease
DOID:918
liver leiomyoma class of disease liver neoplasm Human disease
DOID:917
liver leiomyosarcoma class of disease liver sarcoma leiomyosarcoma and sarcoma of liver that is located in the liver
DOID:5296
liver lipoma class of disease liver neoplasm gastrointestinal system benign neoplasm endocrine organ benign neoplasm human disease
DOID:10190
liver lymphoma class of disease liver cancer endocrine gland cancer gastrointestinal lymphoma rare hepatic disease lymphoma
Human disease
DOID:901
liver neoplasm class of disease liver tumor hepatobiliary neoplasm liver disease endocrine organ benign neoplasm human disease
DOID:916
C04.588.274.623 C06.301.623 C06.552.697
Benign neoplasms of liver
liver rhabdomyosarcoma class of disease liver sarcoma rhabdomyosarcoma and sarcoma of liver that are located in the liver
DOID:4047
liver sarcoma class of disease liver cancer
sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located in the liver
DOID:270
lobomycosis
class of disease dermatomycosis disease
dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has material basis in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions
DOID:13026
C01.800.200.475 C01.150.703.302.475 C17.800.838.208.475
Lobomycosis
lobular neoplasia class of disease breast carcinoma in situ breast neoplasm Human disease
DOID:3010
localized anterior staphyloma class of disease scleral staphyloma Human disease
DOID:13787
localized chondrosarcoma class of disease chondrosarcoma
Human disease
DOID:5862
localized osteosarcoma class of disease osteosarcoma
Human disease
DOID:3356
localized pulmonary fibrosis class of disease pulmonary fibrosis
Human disease
DOID:5642
localized scleroderma
class of disease scleroderma
human disease
DOID:8472
C17.300.787 C17.800.767
Morphea
locked-in syndrome
class of disease neurological disorder disease
condition in which a patient is aware but cannot move or communicate verbally due to complete paralysis of nearly all voluntary muscles in the body except for vertical eye movements and blinking
DOID:12697
C10.597.622.760.500 C10.668.416 C23.888.592.636.786.500
long QT syndrome 1 class of disease long QT syndrome genetic disease autosomal dominant disease A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.
DOID:0110644
long QT syndrome 10 class of disease long QT syndrome genetic disease autosomal dominant disease A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.
DOID:0110651
long QT syndrome 4 class of disease long QT syndrome autosomal dominant disease human disease
DOID:0111701
long bone adamantinoma class of disease adamantinoma
adamantinoma that is located in the long bones and results in focal epithelial differentiation
DOID:2775
long bones of lower limb cancer class of disease bone cancer lower limb cancer bone cancer that is manifested in the long bones of the lower limb
DOID:10149
loose anagen syndrome
class of disease alopecia baldness
human disease
DOID:0111702
low compliance bladder
class of disease bladder disease disease
human disease
DOID:12144
C12.777.829.866 C13.351.968.829.813 C23.888.942.343.780
low grade glioma class of disease glioma
A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.
DOID:0080829
low implantation of placenta class of disease placenta praevia
Human disease
DOID:1677
low tension glaucoma
class of disease open-angle glaucoma Human disease
DOID:13544
C11.640.225
lower respiratory tract disease class of disease respiratory disease
respiratory system disease which involves the lower respiratory tract
DOID:0050161
lumbar plexus neoplasm class of disease nerve plexus neoplasm Human disease
DOID:8389
lumbar spinal canal and spinal cord meningioma class of disease spinal canal and spinal cord meningioma Human disease
DOID:7515
lumbosacral lipoma class of disease bone benign neoplasm lipoma
Human disease
DOID:7017
lumbosacral plexus lesion class of disease peripheral neuropathy
Human disease
DOID:13913
luminal breast carcinoma class of disease breast carcinoma breast carcinoma by gene expression profile Human disease
DOID:0060548
luminal breast carcinoma B class of disease breast carcinoma luminal breast carcinoma human disease
DOID:0080674
lung acinar adenocarcinoma class of disease adenocarcinoma of the lung
Human disease
DOID:6482
lung adenoid cystic carcinoma class of disease lung carcinoma adenoid cystic carcinoma
Human disease
DOID:4872
lung adenoma class of disease lung benign neoplasm benign epithelial neoplasm benign neoplasms by histologic type adenoma
Human disease
DOID:5386
lung benign neoplasm class of disease respiratory system benign neoplasm lung disease lung neoplasm thoracic cancer human disease
DOID:3683
Benign neoplasms of bronchus and lung
lung carcinoma class of disease lung cancer carcinoma
lung cancer that has material basis in abnormally proliferating cells derives from epithelial cells and is located in the lungs and has symptom cough and has symptom chest discomfort or pain and has symptom weight loss and has symptom hemoptysis
DOID:3905
lung carcinoma in situ class of disease in situ carcinoma lung disease lung neoplasm
Human disease
DOID:8800
lung clear cell carcinoma class of disease clear cell carcinoma lung carcinoma Human disease
DOID:7267
lung clear cell-sugar-tumor class of disease lung benign neoplasm perivascular epithelioid cell neoplasm benign perivascular tumor Human disease
DOID:5763
lung combined large cell neuroendocrine carcinoma class of disease large cell neuroendocrine carcinoma of the lung combined carcinoma of lung Human disease
DOID:7207
lung combined type small cell carcinoma class of disease lung small cell carcinoma combined carcinoma of lung lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells
DOID:5421
lung disease class of disease lower respiratory tract disease disease
respiratory disease
DOID:850
C08.381
lung hilum cancer class of disease lung cancer hilar lung neoplasm Human disease
DOID:7696
lung leiomyoma class of disease lung benign neoplasm leiomyoma
Human disease
DOID:5136
lung leiomyosarcoma class of disease leiomyosarcoma
leiomyosarcoma and sarcoma of lung that is located in the lung
DOID:5265
lung lymphoma class of disease lung cancer lymphoma
Human disease
DOID:6760
lung meningioma class of disease lung cancer malignant neoplasm of meninges rare genetic respiratory disease genetic nervous system disorder ectopic meningioma Human disease
DOID:5764
lung mixed small cell and squamous cell carcinoma class of disease pulmonary neuroendocrine tumor lung combined type small cell carcinoma Human disease
DOID:7081
lung mucoepidermoid carcinoma class of disease lung carcinoma mucoepidermoid carcinoma
lung carcinoma that has material basis in a combination of squamous cells, mucus secreting cells and intermediate cells
DOID:0050932
Mucoepidermoid lung carcinoma
lung non-squamous non-small cell carcinoma class of disease non-small-cell lung carcinoma
lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation
DOID:0080521
lung oat cell carcinoma class of disease lung small cell carcinoma Human disease
DOID:5411
lung occult adenocarcinoma class of disease adenocarcinoma of the lung
Human disease
DOID:7168
lung occult large cell carcinoma class of disease large-cell lung carcinoma lung occult non-small cell carcinoma Human disease
DOID:7169
lung occult small cell carcinoma class of disease lung small cell carcinoma lung occult carcinoma Human disease
DOID:5414
lung occult squamous cell carcinoma class of disease squamous cell carcinoma of the lung lung occult carcinoma Human disease
DOID:6510
lung papillary adenocarcinoma class of disease adenocarcinoma of the lung
Human disease
DOID:5588
lung sarcoma class of disease lung cancer sarcoma
lung cancer that is located in the lung and that arises from transformed cells of mesenchymal origin
DOID:2784
lung small cell carcinoma class of disease lung carcinoma small cell carcinoma
lung carcinoma that has material basis in primitive-appearing cells that are smaller than normal cells
DOID:5409
C04.588.894.797.520.109.220.624 C08.381.540.140.750 C08.785.520.100.220.750
lung superior sulcus carcinoma class of disease Pancoast tumor
human disease
DOID:8208
lupus erythematosus
class of disease autoimmune disease autoimmune disease of musculoskeletal system disease
human disease
DOID:8857
lupus nephritis
class of disease glomerulonephritis disease
inflammation of the kidneys
DOID:0080162
C12.200.777.419.570.363.680 C12.050.351.968.419.570.363.680 C17.300.480.680 C20.111.590.560 C12.950.419.570.363.680
Lupus nephritis
luteoma
class of disease ovarian benign neoplasm ovarian disease disease
ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium
DOID:7880
C04.557.475.750.751 C04.588.322.455.464 C13.351.500.056.630.705.464 C13.351.937.418.685.464 C19.344.410.464 C19.391.630.705.464
Luteoma of pregnancy
luxation of globe class of disease globe disease Human disease
DOID:1241
lymph node adenoid cystic carcinoma class of disease lymph node metastasis carcinoma lymph node cancer lymph node carcinoma Human disease
DOID:0060219
lymph node cancer class of disease lymphatic system cancer lymph node neoplasm lymph node disease lymphatic system cancer that is located in the lymph node
DOID:10619
Lymph node cancers
lymph node carcinoma class of disease carcinoma lymph node cancer human disease
DOID:0080618
lymph node disease class of disease lymphatic system disease
Human disease
DOID:9942
Diseases and disorders of lymph nodes
lymph node palisaded myofibroblastoma class of disease lymph node cancer benign neoplasm of lymph node human disease
DOID:8304
lymphadenitis class of disease symptom or sign
lymph node disease clinical sign lymphatic system symptom adenitis
lymph node and lymph vessels inflammation
DOID:1602
C15.604.315
lymphangioma
class of disease lymphatic system malformation benign blood vessel neoplasm disease
malformations of the lymphatic system characterized by lesions that are thin-walled cysts
DOID:1475
C04.557.375.450
Lymphangiomas
lymphangiosarcoma
class of disease lymphatic system cancer angiosarcoma associated with lymphedema skin carcinoma skin sarcoma disease
lymphatic system cancer that has material basis in endothelial cells located in lymphatic vessels
DOID:2689
C04.557.375.480 C04.557.450.795.480
lymphatic system cancer class of disease immune system cancer lymphatic system disease
immune system cancer that is located in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue
DOID:0060073
lymphatic system disease
class of disease immune disorder
immune system disease that is located in the lymphatic system
DOID:75
C15.604
lymphoblastic leukemia class of disease leukemia
leukemia that has material basis in lymphoblasts (immature white blood cells)
DOID:1037
lymphoblastic lymphoma
class of disease symptom or sign
non-Hodgkin lymphoma lymphoma lymphatic system symptom lymphoma that has material basis in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located in primarily lymph nodes or located in extranodal sites
DOID:0080147
lymphocele
class of disease lymphatic system disease
Human disease
DOID:4347
C04.182.430 C15.604.510
lymphocytic gastritis class of disease gastritis chronic gastritis
Human disease
DOID:4035
lymphoepithelioma-like acinar prostate adenocarcinoma class of disease prostate adenocarcinoma prostatic acinar adenocarcinoma Human disease
DOID:7246
lymphoepithelioma-like carcinoma
class of disease carcinoma large cell carcinoma carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells
DOID:5660
Lymphoepithelioma-like carcinoma
lymphoepithelioma-like thymic carcinoma class of disease thymic carcinoma
Human disease
DOID:7599
lymphohistiocytoid mesothelioma class of disease malignant pleural mesothelioma sarcomatoid mesothelioma Human disease
DOID:7381
lymphoid interstitial pneumonia class of disease idiopathic interstitial pneumonia lymphoproliferative disorders
Human disease
DOID:0050159
lymphoma
class of disease symptom or sign
hematologic cancer lymphatic system cancer lymphoma and pseudolymphoma lymphoid neoplasm disease
hematologic cancer that affects lymphocytes
DOID:0060058
C04.557.386 C15.604.515.569 C20.683.515.761
Lymphomas
lymphoma-like variant infiltrating bladder urothelial carcinoma class of disease invasive bladder transitional cell carcinoma Human disease
DOID:7972
lymphopenia
class of disease symptom or sign
leukopenia lymphatic system symptom disease
leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood
DOID:614
C15.378.553.546.605 C20.673.627 C15.378.243.750.605
lymphoplasmacyte-rich meningioma class of disease meningioma
Human disease
DOID:4591
lysosomal and lipase deficiency class of disease lipid storage disease
lipid storage disease characterized by lysosomal and lipase deficiency
DOID:0080217
macrocystic neurilemmoma class of disease neurilemmoma
Human disease
DOID:3203
macrocystic pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:7097
macrocytic anemia
class of disease symptom or sign
anemia
Human disease
DOID:2361
C15.378.071.252
macroglobulinemia
class of disease plasma protein metabolism disease Human disease
DOID:9080
macrotrabecular hepatoblastoma class of disease hepatoblastoma
Human disease
DOID:5798
macular degeneration
class of disease retinal degeneration maculopathy blindness
retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye
DOID:4448
C11.768.585.439
Macular degeneration
macular hole
class of disease retinal disease retinal perforation maculopathy
small break in the macula, located in the center of the eye's light-sensitive tissue called the retina
DOID:7633
Macular hole
macular keratitis class of disease keratitis
human disease
DOID:11871
macular retinal edema
class of disease retinal edema maculopathy disease
Human disease
DOID:4449
C11.768.585.439.245
Macular edema
main bronchus cancer class of disease lung cancer
Human disease
DOID:3924
major depressive disorder
class of disease depressive disorder mental depression disease
all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities
DOID:1470
F03.600.300.375
Major depressive disorder
male breast cancer
class of disease breast cancer male breast neoplasm Human disease
DOID:1614
male genital organ stricture class of disease male reproductive system disease
Human disease
DOID:12333
male genital organ vascular disease class of disease male reproductive system disease vascular disease
Human disease
DOID:12335
male infertility
class of disease symptom or sign
male reproductive system disease infertility sexual impotence disease
inability to father a child
DOID:12336
C12.294.365.700
Male infertility
male reproductive organ benign neoplasm class of disease reproductive organ benign neoplasm male reproductive system neoplasm male reproductive system disease
human disease
DOID:0060087
male reproductive organ cancer class of disease reproductive organ cancer male reproductive system neoplasm male reproductive system disease
cancer that is manifested in the male genital system
DOID:3856
male reproductive system disease
class of disease reproductive system disease male urogenital disease reproductive system disease that affects male reproductive organs
DOID:48
C12.294
Diseases and disorders of the male reproductive system
male urethral cancer class of disease urethral cancer
Human disease
DOID:736
maleic anhydride allergic asthma class of disease allergic asthma maleic anhydride exposure allergic asthma that has allergic trigger maleic anhydride
DOID:0040049
malignant acrospiroma
class of disease acrospiroma sweat gland cancer Human disease
DOID:5570
Malignant acrospiroma
malignant adenofibroma class of disease carcinosarcoma
Human disease
DOID:4422
malignant adult ependymoma class of disease ependymal tumor anaplastic ependymoma Human disease
DOID:5890
malignant anus melanoma class of disease anal cancer mucosal melanoma melanoma
Human disease
DOID:14145
malignant biphasic mesothelioma class of disease mesothelioma
Human disease
DOID:4486
malignant breast melanoma class of disease breast cancer
Human disease
DOID:4364
malignant cardiac germ cell tumor class of disease heart cancer
Human disease
DOID:14535
malignant cardiac peripheral nerve sheath neoplasm class of disease malignant peripheral nerve sheath tumor
Human disease
DOID:14534
malignant childhood germ cell neoplasm class of disease pediatric germ cell tumor germ cell cancer childhood cancer
Human disease
DOID:8149
malignant ciliary body melanoma class of disease ciliary body cancer Human disease
DOID:6524
malignant conjunctival melanoma class of disease conjunctival cancer ocular melanoma Human disease
DOID:1751
malignant cystadenoma class of disease adenocarcinoma cystadenoma
human disease
DOID:60004
malignant cystic nephroma class of disease kidney cancer nephroblastoma childhood multilocular cystic kidney neoplasm kidney cortex disease Human disease
DOID:7571
malignant dermis tumor class of disease skin cancer
Human disease
DOID:5274
malignant epithelial mesothelioma class of disease mesothelioma
Human disease
DOID:4489
malignant epithelioid hemangioendothelioma class of disease malignant hemangioma epithelioid hemangioendothelioma
A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
DOID:0080190
malignant essential hypertension class of disease essential hypertension
Human disease
DOID:10823
malignant eyelid melanoma class of disease skin melanoma Human disease
DOID:10040
malignant fibrous histiocytoma
class of disease histiocytoma fibrous histiocytoma sarcoma
human disease
DOID:1907
malignant fibrous histiocytoma of bone class of disease connective tissue neoplasm osteosarcoma
Human disease
DOID:3352
malignant gastric germ cell tumor class of disease stomach cancer extragonadal germ cell cancer gastrointestinal system disease gastrointestinal system cancer
Human disease
DOID:6949 DOID:4716
malignant gastric granular cell tumor class of disease stomach cancer
Human disease
DOID:10536
malignant gastric teratoma class of disease malignant gastric germ cell tumor gastric teratoma extragonadal non-dysgerminomatous germ cell tumor Human disease
DOID:6948
malignant giant cell tumor class of disease giant cell tumor connective tissue neoplasm
Human disease
DOID:2705
malignant giant cell tumor of soft parts class of disease malignant fibrous histiocytoma malignant giant cell tumor Human disease
DOID:5638
malignant giant cell tumor of the tendon sheath class of disease synovium cancer Human disease
DOID:2704
malignant glandular tumor of peripheral nerve sheath class of disease malignant peripheral nerve sheath tumor
Human disease
DOID:8420
malignant granular cell esophageal tumor class of disease esophageal cancer granular cell tumor
Human disease
DOID:5040
malignant granular cell myoblastoma class of disease skin cancer malignant peripheral nerve neoplasm granular cell tumor
Human disease
DOID:5042
malignant granular cell skin tumor class of disease malignant dermis tumor malignant granular cell myoblastoma Human disease
DOID:7639
malignant hemangioma class of disease sarcoma vascular cancer malignant mixed tumor
cell type cancer of vascular origin, characterized by proliferation of endothelial cells in and about the vascular lumen
DOID:0080189
malignant hypertension
class of disease symptom or sign
arterial hypertension hypertensive crisis disease
condition of markedly elevated blood pressure with diastolic pressure typically greater than 120 mm Hg
DOID:10824
C14.907.489.330
malignant hypertensive renal disease class of disease renal hypertension Human disease
DOID:10177
malignant leptomeningeal tumor class of disease meningioma malignant neoplasm of meninges meningeal carcinomatosis
Human disease
DOID:6086
malignant mediastinal neurogenic neoplasm class of disease mediastinal cancer mediastinal cancer that has material basis in neural cells
DOID:4691
malignant mediastinum hemangiopericytoma class of disease hemangiopericytoma hemangiopericytoma, malignant mediastinal cancer hemangiopericytoma and sarcoma of the mediastinum that is located in the mediastinum
DOID:6209
malignant melanocytic neoplasm of the peripheral nerve sheath class of disease malignant peripheral nerve sheath tumor
Human disease
DOID:6345
malignant melanocytic peripheral nerve sheath tumor of mediastinum class of disease mediastinal cancer peripheral neuropathy malignant melanocytic neoplasm of the peripheral nerve sheath mediastinum sarcoma nervous system cancer Human disease
DOID:7077
malignant mesenchymoma class of disease mesenchymoma Human disease
DOID:5758
malignant mixed tumor
class of disease Mixed tumor cell type cancer cell type cancer that has material basis in cells from two tissues
DOID:154
C04.557.435.525
malignant neoplasm of acoustic nerve class of disease cranial nerve malignant neoplasm vestibulocochlear nerve neoplasm inner ear cancer vestibulocochlear nerve disease ear neoplasms Human disease
DOID:2814
malignant neoplasm of short bones of lower limb class of disease long bones of lower limb cancer Human disease
DOID:10151
malignant oculomotor nerve tumor class of disease cranial nerve III tumor cranial nerve malignant neoplasm Human disease
DOID:2816
malignant otitis externa class of disease otitis externa complications of diabetes mellitus
Human disease
DOID:10516
malignant ovarian Brenner tumor class of disease ovarian cancer ovarian Brenner tumor malignant ovarian surface epithelial-stromal neoplasm malignant ovarian surface epithelial-stromal neoplasm that has material basis in the surface epithelium of the ovary
DOID:4217
malignant ovarian cyst class of disease ovarian cancer ovarian cyst
Human disease
DOID:2145
malignant ovarian germ cell neoplasm class of disease ovarian germ cell neoplasm rare gynecological tumor germ cell cancer ovarian cancer
Human disease
DOID:2155
malignant ovarian surface epithelial-stromal neoplasm class of disease surface epithelial-stromal tumor ovarian cancer
Human disease
DOID:2151
malignant parietal pleura tumor class of disease pleural cancer Human disease
DOID:14032
malignant pediatric adrenal gland pheochromocytoma class of disease adrenal gland pheochromocytoma adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults
DOID:0070325
malignant peripheral nerve sheath tumor
class of disease nerve sheath neoplasms malignant peripheral nerve neoplasm Human disease
DOID:5940
Malignant peripheral nerve sheath tumor
malignant peritoneal solitary fibrous tumor class of disease peritoneum cancer peritoneal solitary fibrous tumor Human disease
DOID:4490
malignant pheochromocytoma class of disease adrenal medulla cancer adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones
DOID:0080347
malignant pineal area germ cell neoplasm class of disease pinealoma
Human disease
DOID:1660
malignant pleural mesothelioma class of disease pleural cancer benign pleural mesothelioma mesothelioma squamous cell carcinoma respiratory system cancer pleural disease
pleural cancer that has material basis in mesothelium cells
DOID:7474
Pleural mesothelioma
malignant renovascular hypertension class of disease malignant secondary hypertension renovascular hypertension renal hypertension Human disease
DOID:13730
malignant secondary hypertension class of disease secondary hypertension
Human disease
DOID:13731
malignant skin fibrous histiocytoma class of disease malignant dermis tumor malignant fibrous histiocytoma
Human disease
DOID:1906
malignant spindle cell melanoma class of disease melanoma hemangiopericytoma spindle cell cancer melanoma that is most commonly located in sun-exposed skin and results in formation of spindle-like shaped cells that have a high recurrence rate even with treatment
DOID:3162
malignant spiradenoma class of disease eccrine sweat gland cancer apocrine sweat gland cancer spiradenoma
Human disease
DOID:7960
malignant struma ovarii class of disease struma ovarii immature teratoma of ovary Human disease
DOID:5208
malignant syringoma class of disease eccrine sweat gland cancer Human disease
DOID:5569
malignant triton tumor
class of disease malignant peripheral nerve sheath tumor
human disease
DOID:6707
malignant tumor of undescended testis class of disease testicular cancer cryptorchidism
Human disease
DOID:12276
malignant type A thymoma class of disease spindle cell thymoma Human disease
DOID:7927
malignant type AB thymoma class of disease mixed type thymoma Human disease
DOID:6723
malignant visceral pleura tumor class of disease pleural cancer Human disease
DOID:14033
malt worker's lung class of disease extrinsic allergic alveolitis
extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley
DOID:2314
mammary Paget's disease
class of disease breast adenocarcinoma disease
type of cancer that may have the appearance of eczema, involving the nipple
DOID:3443
C04.557.470.200.240.187.500 C04.557.470.615.275.625
Paget's disease of the breast
mammary analogue secretory carcinoma
class of disease salivary gland cancer carcinoma salivary gland carcinoma secretory carcinoma
salivary gland neoplasm
DOID:0080808
C04.557.470.200.588
mammary myofibroblastoma
class of disease benign neoplasm muscle tissue neoplasm breast benign neoplasm rare, benign tumor of the breast
DOID:1629
mantle cell lymphoma
class of disease B-cell lymphoma aggressive B-cell non-Hodgkin lymphoma disease
B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles
DOID:0050746
C04.557.386.480.525 C15.604.515.569.480.525 C20.683.515.761.480.525
Mantle cell lymphoma
marasmus
class of disease protein-energy malnutrition disease
form of severe malnutrition characterized by energy deficiency
DOID:12328
Marasmus
marginal corneal ulcer class of disease corneal ulcer
Human disease
DOID:10441
marginal zone B-cell lymphoma
class of disease B-cell lymphoma leukocyte disease group of lymphomas
DOID:0050748
mast cell leukemia
class of disease leukemia rare bone disease mastocytoma
rare leukemia (blood cancer) involving mast cells
DOID:9254
C04.557.337.440 C04.557.337.539.275.440 C20.762.750.750.500
Mast cell leukemia
mast cell sarcoma
class of disease sarcoma mastocytoma
human disease
DOID:355
C04.557.450.565.465.124 C20.762.750.375
mastitis
class of disease symptom or sign
breast disease breastfeeding difficulties inflammatory disease reproductive system disease skin and integumentary tissue symptom disease
inflammation of the breast
DOID:10690
C13.703.844.603 C17.800.090.968
Mastitis
mastocytoma
class of disease tumor of hematopoietic and lymphoid tissues myeloid neoplasm solid tumor consisting of mast cells, generally benign
DOID:3664
C04.557.450.565.465.249 C20.762.750.469
Mastocytoma
mastoiditis
class of disease bone inflammation disease middle ear disease disease
middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process
DOID:0060322
C01.539.160.495.500 C05.116.165.495.249 C09.218.705.663.652
Mastoiditis
mature B-cell neoplasm class of disease B-cell lymphoma
Human disease
DOID:706
mature T-cell and NK-cell lymphoma
class of disease non-Hodgkin lymphoma mature T-cell neoplasm non-Hodgkin lymphoma that has material basis in mature T lymphocytes and natural killer cells
DOID:0050743
mature cataract class of disease senile cataract Human disease
DOID:13717
mature gastric teratoma class of disease gastric teratoma mature teratoma Human disease
DOID:8118
mature teratoma class of disease teratoma
Human disease
DOID:5566
mature teratoma of the ovary class of disease mature teratoma ovarian biphasic or triphasic teratoma ovarian germ cell teratoma Human disease
DOID:6231
Mature teratoma of ovary
maturity-onset diabetes of the young
class of disease diabetes autosomal dominant disease disease
genetic disease that has material basis in mutations in the MODY genes disrupting insulin production
DOID:0050524
maturity-onset diabetes of the young type 14 class of disease maturity-onset diabetes of the young
maturity-onset diabetes of the young that has material basis in heterozygous mutation in the APPL1 gene on chromosome 3p14
DOID:0111111
maturity-onset diabetes of the young type 2
class of disease maturity-onset diabetes of the young
maturity-onset diabetes of the young that has material basis in heterozygous mutation in the GCK gene on chromosome 7p13
DOID:0111100
maturity-onset diabetes of the young type 3 class of disease maturity-onset diabetes of the young
A maturity-onset diabetes of the young that has material basis in mutation in the HNF1A gene on chromosome 12q24.31.
DOID:0111102
maturity-onset diabetes of the young type 4 class of disease maturity-onset diabetes of the young
A maturity-onset diabetes of the young that has material basis in mutation in the PDX1 gene on chromosome 13q12.2.
DOID:0111103
maturity-onset diabetes of the young type 5 class of disease maturity-onset diabetes of the young
maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has material basis in mutation in the HNF1B gene on chromosome 17q12
DOID:0111101
maturity-onset diabetes of the young type 6 class of disease maturity-onset diabetes of the young
maturity-onset diabetes of the young that has material basis in heterozygous mutation in the NEUROD1 gene on chromosome 2q31
DOID:0111104
maxillary sinus cancer class of disease paranasal sinus cancer maxillary sinus neoplasm Human disease
DOID:1357
maxillary sinus cholesteatoma class of disease paranasal sinus disease cholesteatoma mouth disease
cholesteatoma located in paranasal sinus
DOID:867
maxillary sinusitis class of disease nose disease sinusitis mouth disease
sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache
DOID:2051
C08.460.692.752.578 C08.730.749.578 C09.603.692.752.578 C01.748.749.578
mechanical ectropion class of disease ectropion
Human disease
DOID:1569
mechanical entropion class of disease entropion
Human disease
DOID:13112
mechanical lagophthalmos class of disease lagophthalmos
Human disease
DOID:13037
mechanical strabismus class of disease strabismus
Human disease
DOID:9306
meconium aspiration syndrome
class of disease lung disease perinatal respiratory disorder disease
Human disease
DOID:11049
C08.381.520.687 C08.618.580 C13.703.277.785 C16.300.580 C16.614.580
Meconium aspiration syndrome
medial epicondylitis
class of disease bone inflammation disease arm injuries disease
bone inflammation disease that results in inflammation located in epicondyle
DOID:14087
Golfer's elbow
median arcuate ligament syndrome
class of disease vascular surgery rare abdominal surgical disease syndrome
Human disease
DOID:9892
C06.198.929C14.240.850.922 C14.907.137.527 C16.131.240.850.898
Median arcuate ligament syndrome
median nerve neuropathy class of disease mononeuritis of upper limb and mononeuritis multiplex brachial plexus neuritis Human disease
DOID:571
C10.668.829.500.500
mediastinal cancer class of disease thoracic cancer mediastinal neoplasm
thoracic cancer that is located in the mediastinum
DOID:5559
Mediastinal cancers
mediastinal granular cell myoblastoma class of disease malignant mediastinal neurogenic neoplasm granular cell tumor mediastinal neurilemmoma Human disease
DOID:5046
mediastinal gray zone lymphoma class of disease gray zone lymphoma mediastinal malignant lymphoma Human disease
DOID:6867
mediastinal lipomatosis class of disease lipomatosis
Human disease
DOID:3926
mediastinal malignant lymphoma class of disease mediastinal cancer lymphoma
Human disease
DOID:6868
mediastinal melanocytic neurilemmoma class of disease melanotic neurilemmoma Human disease
DOID:6484
mediastinal mesenchymal tumor class of disease mediastinal neoplasm mesenchymal cell neoplasm Human disease
DOID:5560
mediastinal neurilemmoma class of disease peripheral nerve schwannoma mediastinal neoplasm
Human disease
DOID:6175
mediastinal osteogenic sarcoma class of disease extraosseous osteosarcoma mediastinum sarcoma Human disease
DOID:6208
mediastinitis
class of disease connective tissue disease mediastinal disease inflammatory disease disease
inflammatory process affecting the mediastinum
DOID:819
C08.846.187.790
mediastinum angiosarcoma class of disease angiosarcoma mediastinum sarcoma angiosarcoma and sarcoma of the mediastinum that is located in the mediastinum
DOID:4525
mediastinum leiomyoma class of disease leiomyoma benign neoplasm of mediastinum thoracic benign neoplasm mediastinal neurilemmoma Human disease
DOID:5123
mediastinum leiomyosarcoma class of disease mediastinum sarcoma leiomyosarcoma
leiomyosarcoma and sarcoma of the mediastinum that derive from smooth muscle and are usually located in the esophagus or located in the main vessels
DOID:5292
mediastinum liposarcoma class of disease liposarcoma mediastinum sarcoma liposarcoma and mediastinum sarcoma that is located in the mediastinum
DOID:5713
mediastinum neurofibroma class of disease malignant mediastinal neurogenic neoplasm neurofibroma
Human disease
DOID:12064
mediastinum rhabdomyosarcoma class of disease mediastinum sarcoma rhabdomyosarcoma
rhabdomyosarcoma and sarcoma of the mediastinum that is located in the mediastinum and affects children and adolescents
DOID:4049
mediastinum sarcoma class of disease mediastinal cancer sarcoma mediastinal soft tissue cancer sarcoma and malignant mediastinal mesenchymnal tumor that is located in the mediastinum
DOID:4050
mediastinum seminoma class of disease mediastinal cancer extragonadal seminoma mediastinal malignant germ cell tumor germ cell cancer Human disease
DOID:6249
mediastinum synovial sarcoma class of disease mediastinum sarcoma synovial sarcoma
sarcoma of the mediastinum and synovial sarcoma that is located in the mediastinum
DOID:5488
mediastinum teratoma class of disease mediastinal cancer mediastinal germ cell tumor teratoma
Human disease
DOID:5568
medullary colon carcinoma class of disease colon carcinoma colon carcinoma that is characterized by a solid growth pattern
DOID:0080183
medulloadrenal hyperfunction class of disease adrenal gland disease
Human disease
DOID:12257
medulloblastoma SHH activated class of disease medulloblastoma
human disease
DOID:0080703
medulloblastoma SHH activated and TP53 mutant class of disease medulloblastoma SHH activated human disease
DOID:0080704
medulloblastoma SHH activated and TP53 wild-type class of disease medulloblastoma SHH activated human disease
DOID:0080705
medulloblastoma WNT activated class of disease medulloblastoma
human disease
DOID:0080702
medulloblastoma non-WNT/non-SHH class of disease medulloblastoma
human disease
DOID:0080706
medulloblastoma non-WNT/non-SHH group 3 class of disease medulloblastoma non-WNT/non-SHH human disease
DOID:0080707
medulloblastoma non-WNT/non-SHH group 4 class of disease medulloblastoma non-WNT/non-SHH human disease
DOID:0080708
medulloepithelioma
class of disease central nervous system primitive neuroectodermal neoplasm
Human disease
DOID:4790
Medulloepithelioma
medullomyoblastoma class of disease medulloblastoma
Human disease
DOID:3861
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations class of disease syndromic intellectual disability autosomal dominant disease human disease
DOID:0111403
megacolon
class of disease colonic disease disease
colonic disease that is characterized by an abnormal dilation of the colon
DOID:11372
C06.405.469.158.701
Megacolon
megaesophagus
class of disease esophageal disease disease
abnormal dilation of the esophagus not due to obstruction
DOID:13186
megalencephalic leukoencephalopathy with subcortical cysts 1 class of disease megalencephalic leukoencephalopathy with subcortical cysts genetic disease autosomal recessive disease human disease
DOID:0080316
meibomian cyst
class of disease symptom or sign
internal hordeolum blepharitis disease
Cyst in the eyelid caused by chronic granulomatous inflammation of Meibomian gland
DOID:9903
C04.182.197 C11.338.300
Chalazion
melancholia
class of disease symptom or sign
major depressive disorder mental depression disease
DSM-IV subtype of clinical depression
DOID:2848
melanoacanthoma
class of disease seborrheic keratosis
Human disease
DOID:11684
melanocytic psammomatous MPNST class of disease malignant melanocytic neoplasm of the peripheral nerve sheath Human disease
DOID:6344
melanoma and neural system tumor syndrome class of disease hereditary neoplastic syndromes rare nervous system tumor rare genetic developmental defect during embryogenesis inherited nervous system cancer-predisposing syndrome nervous system cancer genetic nervous system disorder inherited tumor autosomal dominant disease syndrome
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term)
DOID:0111511
melanoma in congenital melanocytic nevus class of disease skin melanoma congenital melanocytic nevus
skin melanoma that arises from a congenital melanocytic nevus
DOID:0070327
melanoma with features of a Spitz nevus
class of disease Spitzoid lesion melanoma skin melanoma skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia
DOID:0070326
Spitzoid melanoma
melanomatosis class of disease melanoma
Human disease
DOID:7206
melanotic medulloblastoma class of disease medulloblastoma
Human disease
DOID:3868
melanotic neurilemmoma class of disease neurilemmoma
Human disease
DOID:3205
melanotic neuroectodermal tumor
class of disease bone benign neoplasm neuroectodermal tumor
Human disease
DOID:166
C04.557.465.625.630 C04.557.580.625.630
Melanotic neuroectodermal tumor of infancy
melon allergy class of disease fruit allergy
fruit allergy triggered by Cucumis melo plant fruit food product.
DOID:0060509
melphalan allergy class of disease drug allergy
drug allergy that has allergic trigger melphalan
DOID:0040066
membranous glomerulonephritis
class of disease glomerulonephritis lupus nephritis disease
human disease
DOID:10976
C12.777.419.570.363.625 C13.351.968.419.570.363.625 C20.111.535
Membranous glomerulonephritis
meningeal melanocytoma class of disease central nervous system melanocytic neoplasm primary melanocytic tumor of central nervous system malignant neoplasm of meninges Human disease
DOID:5900
meningeal melanoma class of disease malignant leptomeningeal tumor central nervous system melanocytic neoplasm Human disease
DOID:6085
meningeal melanomatosis class of disease central nervous system melanocytic neoplasm melanomatosis malignant neoplasm of meninges Human disease
DOID:8243
meninges hemangiopericytoma class of disease meningioma hemangiopericytoma malignant neoplasm of meninges Human disease
DOID:4957
meninges sarcoma class of disease meningioma malignant neoplasm of meninges sarcoma
Human disease
DOID:7614
meningioma
class of disease meningeal neoplasm central nervous system cancer disease
Tumor forms from meninges
DOID:3565
C04.557.580.520 C04.557.645.520 C04.588.614.250.580.500 C10.551.240.500.500
Meningioma
meningitis
class of disease symptom or sign
encephalomyelitis central nervous system disease disease
inflammation of the membranes around the brain and spinal cord
DOID:9471
C10.228.614
Meningitis
meningocele class of disease spina bifida cephalocele Human disease
DOID:1088
C10.500.680.598 C16.131.666.680.598 C23.300.707.968
meningococcal meningitis class of disease bacterial meningitis meningococcal disease
bacterial meningitis that has material basis in Neisseria meningitidis infection
DOID:0080176 DOID:9929
C01.150.252.223.500.750 C01.150.252.400.625.549.449 C10.228.228.180.500.750 C10.586.625.280.505 C01.207.180.500.750
meningoencephalitis
class of disease symptom or sign
central nervous system disease meningitis encephalitis neurological symptom disease
central nervous system disease that involves encephalitis which occurs along with meningitis
DOID:10554
C10.228.140.430.550 C10.228.228.245.550 C10.228.228.570 C01.207.245.550 C01.207.570 C10.586.250.550 C10.586.625.500
meningothelial meningioma class of disease meningioma
Human disease
DOID:7212
meningovascular neurosyphilis class of disease tertiary neurosyphilis syphilitic meningitis
Human disease
DOID:0050491
mental depression
class of disease symptom or sign
mood disorder neurological and physiological symptom disease
state of low mood and aversion to activity, which can affect a person's thoughts, behavior, motivation, feelings, and sense of well-being
DOID:1596
F01.145.126.350
Depression (mood)
mental disorder
class of disease disease
distressing thought or behavior pattern
DOID:150
F03
Mental and behavioural diseases and disorders
mepivacaine allergy class of disease drug allergy
drug allergy that has allergic trigger mepivacaine
DOID:0040010
meropenem allergy class of disease beta-lactam allergy allergic asthma beta-lactam allergy that has allergic trigger meropenem
DOID:0040038
mesangial proliferative glomerulonephritis
class of disease glomerulonephritis proliferative glomerulonephritis lupus nephritis
glomerulonephritis associated primarily with the mesangium
DOID:4783
mesenchymal cell neoplasm class of disease cell type cancer Human disease
DOID:3350
mesenchymal chondrosarcoma
class of disease chondrosarcoma mesenchymal cell neoplasm small cell sarcoma Human disease
DOID:4545
C04.557.450.565.280.280 C04.557.450.795.300.280
mesenchymoma class of disease connective tissue neoplasm
Human disease
DOID:2668
C04.557.435.500
mesenteric adenitis class of disease lymphadenitis adenitis
lymphadenitis
DOID:10782
C06.844.520 C15.604.315.618
Mesenteric adenitis
mesenteric vascular occlusion class of disease peripheral vascular disease mesenteric ischemia
Human disease
DOID:13252
C06.405.469.675 C06.844.550 C14.907.137.534
mesocestoidiasis class of disease parasitic helminthiasis infectious disease
parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting
DOID:0050253
metabolic acidosis
class of disease acidosis acquired metabolic disease disease
lactic acidosis that has material basis in high levels of acid
DOID:0050758
Metabolic acidosis
metabolic disease
class of disease disease nutritional and metabolic diseases disease that involving errors in metabolic processes of building or degradation of molecules
DOID:0014667
C18.452
Metabolic diseases and disorders
metachronous kidney Wilms' tumor class of disease nephroblastoma
Human disease
DOID:5178
metachronous osteosarcoma of the bone class of disease osteosarcoma
Human disease
DOID:3379
metal allergy
class of disease allergy
hypersensitivity reaction type I disease triggered by a metal
DOID:0060501
Metal allergies
metal metabolism disorder
class of disease mineral metabolism disease inherited metabolic disorder
inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals
DOID:896
C16.320.565.618 C18.452.648.618
metanephric adenoma
class of disease renal adenoma Human disease
DOID:6404
Metanephric adenoma
metaphyseal dysplasia
class of disease osteochondrodysplasia
osteochondrodysplasia that results in thinning and the tendency to fracture located in bone
DOID:0080019
metatypical basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4281
methemoglobinemia
class of disease hemoglobinopathy disease
a form of toxic anemia characterized by the presence of methemoglobin in the blood
DOID:10783
C15.378.619
Methemoglobinemia
methotrexate-associated lymphoproliferation class of disease lymphoma
Human disease
DOID:5821
methyl isocyanate allergic asthma class of disease isocyanates allergic asthma allergic asthma to isocyanates that has allergic trigger methyl isocyanate
DOID:0040044
methylmalonic acidemia cblB type class of disease methylmalonic acidemia genetic disease vitamin B12-responsive methylmalonic acidemia Human disease
DOID:0060743
methylmalonic aciduria and homocystinuria type cblE class of disease methylmalonic acidemia methylmalonic acidemia with homocystinuria Human disease
DOID:0050732
methylmalonic aciduria and homocystinuria type cblG class of disease methylmalonic acidemia methylmalonic acidemia with homocystinuria Human disease
DOID:0050733
microcystic adenoma class of disease pancreatic cystadenoma benign neoplasms by histologic type Human disease
DOID:5403
microcystic meningioma class of disease meningioma
Human disease
DOID:4594
microcystic variant infiltrating bladder urothelial carcinoma class of disease invasive bladder transitional cell carcinoma Human disease
DOID:7971
microglandular adenosis class of disease breast disease
Human disease
DOID:5998
microglandular adenosis of breast class of disease microglandular adenosis Human disease
DOID:8335
microinvasive cervical squamous cell carcinoma class of disease cervical squamous cell carcinoma Human disease
DOID:8409
microinvasive gastric cancer class of disease gastric adenocarcinoma Human disease
DOID:10541
microlissencephaly class of disease lissencephaly
human disease
DOID:0112234
micronodular basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4289
microorchidism
class of disease testicular disease hypogonadism, male congenital human disease
DOID:11994
Microorchidism
micropapillary variant infiltrating bladder urothelial carcinoma class of disease invasive bladder transitional cell carcinoma Human disease
DOID:6976
micropapillomatosis labialis class of disease vulvar squamous papilloma Vestibular papillomatosis
Human disease
DOID:6569
microphthalmia with brain and digit anomalies class of disease syndromic microphthalmia autosomal dominant disease human disease
DOID:0111805
microphthalmia–dermal aplasia–sclerocornea syndrome
class of disease syndromic microphthalmia syndrome
human disease
DOID:0111875
microscopic breast papilloma class of disease breast duct papilloma Human disease
DOID:8225
microscopic colitis
class of disease colitis disease
colitis that can only be diagnosed by the examination of colon tissue under a microscope
DOID:0060182
C06.405.205.265.173 C06.405.469.158.188.173
Microscopic colitis
middle cerebral artery infarction
class of disease cerebral arterial disease cerebral infarction cerebral artery occlusion human disease
DOID:3525
C10.228.140.300.150.477.200.450 C10.228.140.300.510.200.387 C10.228.140.300.775.200.200.450 C14.907.253.092.477.200.450 C14.907.253.560.200.387 C14.907.253.855.200.200.450
middle ear adenoma class of disease sensory organ benign neoplasm middle ear disease neoplasm of middle ear benign neoplasms by histologic type benign neoplasm of ear Human disease
DOID:5387
middle ear cancer class of disease neoplasm of middle ear auricular cancer middle ear disease auditory system cancer that is located in the middle ear
DOID:5099
middle ear cholesterol granuloma class of disease otitis media cholesteatoma
Human disease
DOID:10852
middle lobe syndrome class of disease lung disease atelectasis
human disease
DOID:2810
C08.381.730.542
midface dysplasia
class of disease osteochondrodysplasia disease
Human disease
DOID:0050767
midline cystocele class of disease pelvic organ prolapse cystocele
Human disease
DOID:14131
migraine
class of disease encephalopathy disease
disorder resulting in recurrent moderate-severe headaches
DOID:6364
C10.228.140.546.399.750
Migraine
migraine with aura class of disease migraine
migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon
DOID:10024
C10.228.140.546.399.750.250
migraine without aura class of disease migraine rare genetic headache disorder migraine that is characterized by migraine headaches that are not accompanied by an aura
DOID:12783
C10.228.140.546.399.750.450
mild pre-eclampsia class of disease pre-eclampsia
pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation
DOID:10590
miliaria
class of disease sweat gland disease disease
Human disease
DOID:1382
C17.800.946.492
Miliaria (disease)
miliaria profunda
class of disease miliaria
miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash
DOID:0070320
miliaria pustulosa class of disease miliaria
miliaria that is characterized by pustules resulting from inflammation and bacterial infection
DOID:0070319
miliaria rubra class of disease miliaria
Human disease
DOID:11153
Miliaria rubra
milk allergy
class of disease food allergy disease
type of food allergy caused by milk
DOID:4376
C20.543.480.370.500
Milk allergy
mineral metabolism disease class of disease acquired metabolic disease disorder of metabolite absorption and transport acquired metabolic disease that is characterized by abnormal mineral metabolism
DOID:0050032
Disorders of mineral metabolism
minor vestibular glands adenoma class of disease vestibular gland benign neoplasm adenoma
Human disease
DOID:2075
mirror agnosia class of disease agnosia visual agnosia
agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field
DOID:0060144
mirror movement disorder
class of disease synkinesis movement disorders
movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs
DOID:0111153
mitochondrial DNA depletion syndrome 12b class of disease autosomal recessive disease mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 12 human disease
DOID:0080335
mitochondrial DNA depletion syndrome 14 class of disease mitochondrial DNA depletion syndrome
human disease
DOID:0080336
mitochondrial DNA depletion syndrome 15 class of disease autosomal recessive disease mitochondrial DNA depletion syndrome
human disease
DOID:0080337
mitochondrial DNA depletion syndrome 17 class of disease mitochondrial DNA depletion syndrome
human disease
DOID:0070448
mitochondrial DNA depletion syndrome 8b class of disease mitochondrial DNA depletion syndrome autosomal recessive disease human disease
DOID:0070331
mitochondrial complex III deficiency class of disease mitochondrial disease
mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III
DOID:0111139
mitochondrial complex V (ATP synthase) deficiency class of disease mitochondrial disease mitochondrial complex deficiency mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex
DOID:0111143
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 class of disease mitochondrial complex V (ATP synthase) deficiency human disease
DOID:0111748
mitochondrial complex V (ATP synthase) deficiency nuclear type 6 class of disease mitochondrial complex V (ATP synthase) deficiency human disease
DOID:0111749
mitochondrial nonsyndromic sensorineural deafness class of disease sensorineural hearing loss mitochondrial deafness human disease
DOID:0111751
mitochondrial type mitochondrial complex I deficiency class of disease mitochondrial complex I deficiency human disease
DOID:0112100
mitochondrial type mitochondrial complex I deficiency 1 class of disease mitochondrial type mitochondrial complex I deficiency human disease
DOID:0112101
mitral valve disease class of disease heart valve disease
Human disease
DOID:61
Mitral valve diseases
mitral valve insufficiency
class of disease mitral valve disease valve insufficiency disease
disorder of the heart in which the mitral valve does not close properly when the heart pumps out blood
DOID:11502
C14.280.484.461
Mitral valve insufficiency
mitral valve stenosis
class of disease mitral valve disease heart valve stenosis disease
mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart
DOID:1754
C14.280.484.517
Mitral valve stenosis
mixed astrocytoma-ependymoma class of disease mixed glioma Human disease
DOID:7907
mixed astrocytoma-ependymoma-oligodendroglioma class of disease mixed glioma Human disease
DOID:7817
mixed cell adenoma class of disease adenoma
Human disease
DOID:5385
mixed cell type adenoma of parathyroid class of disease parathyroid adenoma mixed cell adenoma Human disease
DOID:7610
mixed cell type kidney Wilms' tumor class of disease nephroblastoma
Human disease
DOID:5179
mixed cerebral palsy
class of disease cerebral palsy
subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy
DOID:0050673
mixed ductal-endocrine carcinoma class of disease pancreatic ductal adenocarcinoma Human disease
DOID:7716
mixed endometrial stromal and smooth muscle tumor class of disease uterine corpus cancer Human disease
DOID:8302
mixed epithelial stromal tumour class of disease malignant mixed tumor
Human disease
DOID:5088
mixed epithelial tumor of ovary class of disease ovarian benign neoplasm Human disease
DOID:6211
mixed epithelial/mesenchymal metaplastic breast carcinoma class of disease breast metaplastic carcinoma Human disease
DOID:7541
mixed extragonadal germ cell cancer class of disease mixed germ cell cancer mixed germ cell cancer that is located in areas of the body other than the ovary or testicle
DOID:0050907
mixed fibrolamellar hepatocellular carcinoma class of disease fibrolamellar hepatocellular carcinoma
fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and conventional hepatocellular carcinoma components
DOID:0080182
mixed germ cell cancer class of disease germ cell cancer germ cell cancer that occurs in many forms
DOID:3306
Mixed germ cell neoplasia
mixed germ cell-sex cord neoplasm class of disease malignant mixed tumor sex cord-gonadal stromal tumor
Human disease
DOID:2996
mixed glioma class of disease glioma
Human disease
DOID:5076
mixed gonadal dysgenesis X0/XY
class of disease Turner syndrome gonadal dysgenesis disease
intersex variation
DOID:14449 DOID:0080656
C12.706.316.309.391 C12.706.316.795.249 C13.351.875.253.309.391 C13.351.875.253.795.249 C16.131.260.830.835.249 C16.131.939.316.309.391 C16.131.939.316.795.249 C16.320.180.830.835.249 C19.391.119.309.391 C19.391.119.795.249
mixed hepatoblastoma class of disease hepatoblastoma
Human disease
DOID:5789
mixed lacrimal gland cancer class of disease lacrimal gland cancer Human disease
DOID:296
mixed liposarcoma class of disease liposarcoma
Human disease
DOID:5703
mixed malaria class of disease malaria
malaria that involves infection with more than one species of Plasmodium at the same time
DOID:14325
mixed oligodendroglioma-astrocytoma class of disease mixed glioma Human disease
DOID:7912
mixed phenotype acute leukemia with MLL rearranged class of disease acute biphenotypic leukaemia
human disease
DOID:0081037
mixed phenotype acute leukemia, B/myeloid class of disease acute biphenotypic leukaemia
human disease
DOID:0081038
mixed receptive-expressive language disorder
class of disease communication disorder
neurodevelopmental condition
DOID:12685
mixed sleep apnea class of disease sleep apnea
human disease
DOID:0080302
mixed testicular germ cell tumor class of disease testicular malignant germ cell cancer mixed germ cell cancer mixed germ cell cancer that is located in the testis
DOID:4743
mixed type rhabdomyosarcoma class of disease rhabdomyosarcoma
Human disease
DOID:4065
mixed type thymoma class of disease thymoma
Human disease
DOID:3280
mixed-type liposarcoma class of disease liposarcoma
Human disease
DOID:5709
mollusc allergy class of disease shellfish allergy
shellfish allergy triggered by Mollusca
DOID:0060523
molybdenum cofactor deficiency type A class of disease molybdenum cofactor deficiency genetic disease
human disease
DOID:0111164
monoclonal gammopathy of uncertain significance
class of disease monoclonal gammopathy blood protein disease human disease
DOID:7442
C15.378.147.542.640 C15.378.147.780.570 C20.683.460.640 C20.683.780.640
monoclonal paraproteinemia class of disease plasma protein metabolism disease paraproteinemia monoclonal gammopathy
Human disease
DOID:2346
monocular esotropia class of disease esotropia
Human disease
DOID:10293
monocular exotropia class of disease exotropia
Human disease
DOID:11853
monocyte, dendritic cell, and NK cell deficiency class of disease combined immunodeficiency
human disease
DOID:0111966
monocytic leukemia
class of disease myeloid leukemia
type of myeloid leukemia characterized by a dominance of monocytes in the marrow
DOID:8527
monodermal teratoma class of disease ovarian germ cell teratoma Human disease
DOID:5207
monofixation syndrome
class of disease strabismus
Human disease
DOID:9843
Monofixation syndrome
monogenic disease class of disease genetic disease
Human disease
DOID:0050177
mononeuritis class of disease mononeuropathy
Human disease
DOID:1802
mononeuritis multiplex class of disease mononeuritis of upper limb and mononeuritis multiplex Human disease
DOID:1835
mononeuritis of lower limb class of disease mononeuritis Human disease
DOID:9473
mononeuritis of upper limb class of disease mononeuritis of upper limb and mononeuritis multiplex Human disease
DOID:1844
mononeuritis of upper limb and mononeuritis multiplex class of disease mononeuritis Human disease
DOID:572
mononeuropathy
class of disease peripheral neuropathy disease
neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve
DOID:1188
C10.668.829.500
monophasic synovial sarcoma class of disease synovial sarcoma
Human disease
DOID:5495
mood disorder
class of disease mental disorder
any of various disorders characterised primarily by disturbance in an individual's mood
DOID:3324
F03.600
Mood disorders
morbid obesity class of disease obesity
human disease
DOID:11981
C18.654.726.500.700 C23.888.144.699.500.500 E01.370.600.115.100.160.120.699.500.500 G07.100.100.160.120.699.500.500
Obesity
morpheaform basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4292
morphine dependence class of disease opiate dependence opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance
DOID:2560
C25.775.675.600
mosaic variegated aneuploidy syndrome class of disease syndrome aneuploidy
human disease
DOID:0080688
mosaic variegated aneuploidy syndrome 3 class of disease autosomal recessive disease mosaic variegated aneuploidy syndrome human disease
DOID:0080689
motility-related diarrhea class of disease diarrhea
Human disease
DOID:0050131
motor neuritis class of disease motor neuron disease
Human disease
DOID:683
motor neuron disease
class of disease neurological disorder neurodegeneration disease
group of neurological disorders affecting motor neurons
DOID:231
C10.574.562 C10.668.467
Motor neuron diseases
mouth cancer
class of disease gastrointestinal system cancer mouth disease oral cavity neoplasm head and neck cancer disease
gastrointestinal system cancer that is located in the oral cavity
DOID:8618
Oral cancer
mouth disease
class of disease gastrointestinal system disease stomatognathic disease disease of anatomical entity disease
gastrointestinal system disease that is located in the mouth
DOID:403
C07.465
Diseases and disorders of oral cavity, salivary glands and jaws
movement disorders
class of disease encephalopathy motor dysfunction disease
clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements
DOID:480
C10.228.662
Movement disorders
mpox
class of disease symptom or sign notifiable disease
viral infectious disease Poxviridae infectious disease zoonosis disease
viral disease
DOID:3292
C01.925.256.743.615 C22.735.750 C22.795.600
Monkeypox
mu chain disease class of disease heavy chain disease
heavy chain disease that results from an overproduction of mu antibody (IgM)
DOID:0060128
mucin-rich endometrial endometrioid adenocarcinoma class of disease endometrial adenocarcinoma Human disease
DOID:7293
mucinosis
class of disease connective tissue disease metabolic disease
human disease
DOID:3141
C17.300.550
Mucinoses
mucinous adenocarcinoma class of disease adenocarcinoma
adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin
DOID:3030
C04.557.470.200.025.075 C04.557.470.590.075
Pseudomyxoma peritonei
mucinous adenofibroma class of disease adenofibroma Human disease
DOID:2700
mucinous cystadenocarcinoma
class of disease cystadenocarcinoma mucinous tumor cystadenocarcinoma that derives from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells
DOID:3603
C04.557.470.200.025.480.225 C04.557.470.590.480.225
mucinous cystadenocarcinoma of the lung
class of disease adenocarcinoma of the lung mucinous cystadenocarcinoma
lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue
DOID:0080304
mucinous cystadenofibroma class of disease cystadenofibroma benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma
DOID:6468
mucinous intrahepatic cholangiocarcinoma class of disease intrahepatic cholangiocarcinoma bile duct mucinous adenocarcinoma Human disease
DOID:7024
mucinous lung adenocarcinoma class of disease adenocarcinoma of the lung mucinous adenocarcinoma lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces
DOID:0080303
mucinous ovarian cystadenoma class of disease ovarian cystadenoma mucinous cystadenoma
Human disease
DOID:3267
Mucinous cystoadenoma of the ovary
mucinous pancreas adenocarcinoma class of disease pancreatic adenocarcinoma mucinous adenocarcinoma human disease
DOID:0080782
mucinous stomach adenocarcinoma class of disease gastric diffuse adenocarcinoma mucinous adenocarcinoma Human disease
DOID:3716
mucinous tubular and spindle cell carcinoma
class of disease renal cell carcinoma tubulopathy spindle cell carcinoma
human disease
DOID:4472
Mucinous tubular and spindle cell carcinoma
mucocele of appendix class of disease intestinal disease mucocele
Human disease
DOID:13248
mucoepidermoid esophageal carcinoma class of disease esophageal carcinoma mucoepidermoid carcinoma
Human disease
DOID:4686
mucoepidermoid thyroid carcinoma class of disease thyroid carcinoma mucoepidermoid carcinoma thyroid gland adenocarcinoma Human disease
DOID:4687
mucolipidosis type III gamma class of disease pseudo-Hurler polydystrophy mucolipidosis autosomal recessive disease human disease
DOID:0080678
mucopolysaccharidosis IV class of disease
human disease
DOID:0050808
mucopolysaccharidosis Ih class of disease autosomal recessive disease mucopolysaccharidosis I human disease
DOID:0111390
mucopolysaccharidosis Ih/s class of disease autosomal recessive disease mucopolysaccharidosis I human disease
DOID:0111389
mucopolysaccharidosis type IIIA class of disease Sanfilippo syndrome autosomal recessive disease human disease
DOID:0111395
mucopolysaccharidosis type IIIB class of disease Sanfilippo syndrome autosomal recessive disease human disease
DOID:0111394
mucopolysaccharidosis type IIIC class of disease autosomal recessive disease Sanfilippo syndrome
human disease
DOID:0111393
mucopolysaccharidosis type IIID class of disease autosomal recessive disease Sanfilippo syndrome
human disease
DOID:0111402
mucopolysaccharidosis type IVA class of disease Morquio syndrome autosomal recessive disease human disease
DOID:0111391
mucopolysaccharidosis type IVB class of disease autosomal recessive disease Morquio syndrome
human disease
DOID:0111392
mucormycosis
class of disease symptom or sign
zygomycosis opportunistic mycosis disease
fungal infection by the order Mucorales
DOID:8485 DOID:0050595
C01.150.703.980.600
mucosal melanoma
class of disease melanoma extracutaneous melanoma melanoma that has material basis in melanocytes located in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract
DOID:0050929
mucositis
class of disease skin disease gastrointestinal system disease
gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract
DOID:0080178
C06.405.205.798 C07.465.584
Mucositis
multicentric papillary thyroid carcinoma class of disease papillary thyroid cancer
Human disease
DOID:7086
multicentric reticulohistiocytosis
class of disease Reticulohistiocytosis syndrome
syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis
DOID:11824
multifocal dystonia class of disease dystonia
dystonia that involves two or more unrelated body parts
DOID:0050837
multifocal osteogenic sarcoma class of disease osteosarcoma bone sarcoma
Human disease
DOID:3360
multilocular cystic clear cell renal cell carcinoma
class of disease renal cell carcinoma renal clear cell carcinoma
human disease
DOID:4463
multiminicore disease class of disease
human disease
DOID:0080991
multinodular goiter
class of disease goiter nodular goiter goiter characterized by a multinodular enlargement of the thyroid gland
DOID:0050489
multiple benign circumferential skin creases on limbs class of disease skin disease
human disease
DOID:0112241
multiple chemical sensitivity
class of disease syndrome
chronic medical condition of disputed but probably multifactorial etiology (genetic and non-genetic)
DOID:4661
C20.543.312.500 C21.223.500
Multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome class of disease lipid metabolism disorder
lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency
DOID:0080503
multiple cranial nerve palsy class of disease glossopharyngeal nerve disease cranial nerve disease
Human disease
DOID:13866
multiple endocrine neoplasia
class of disease endocrine gland neoplasm multiple polyglandular tumor human disease
DOID:3125
C04.588.322.400 C04.651.600 C04.700.630 C16.320.700.630 C19.344.400
Multiple endocrine neoplasia
multiple epiphyseal dysplasia 2 class of disease multiple epiphyseal dysplasia genetic disease autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A2 gene on chromosome 1p34
DOID:0070298
multiple epiphyseal dysplasia 3 class of disease multiple epiphyseal dysplasia genetic disease multiple epiphyseal dysplasia due to collagen 9 anomaly autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A3 gene on chromosome 20q13
DOID:0070304
multiple epiphyseal dysplasia 7 class of disease multiple epiphyseal dysplasia genetic disease autosomal recessive disease multiple epiphyseal dysplasia that has material basis in homozygous mutation in the CANT1 gene on chromosome 17q25
DOID:0070302
multiple epiphyseal dysplasia due to collagen 9 anomaly class of disease multiple epiphyseal dysplasia genetic disease monogenic disease multiple epiphyseal dysplasia that has material basis in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)
DOID:0070305
multiple epiphyseal dysplasia with myopia and deafness class of disease syndrome autosomal dominant disease human disease
DOID:0111348
multiple mitochondrial dysfunctions syndrome 6 class of disease fatal multiple mitochondrial dysfunctions syndrome autosomal recessive disease human disease
DOID:0070332
multiple mucosal neuroma class of disease neuroma
Human disease
DOID:5155
multiple myeloma
class of disease leukocyte disease myeloid neoplasm immunoproliferative disorder disease
cancer of plasma cells
DOID:9538
C04.557.595.500 C14.907.454.460 C15.378.147.780.650 C15.378.463.515.460 C20.683.515.845 C20.683.780.650
Multiple myeloma
multiple spinal canal and spinal cord meningioma class of disease spinal canal and spinal cord meningioma Human disease
DOID:7646
multisystem proteinopathy
class of disease motor neuron disease
human disease
DOID:070355
mumps
class of disease symptom or sign
parotitis mumps virus infectious disease herpangina salivary gland disease disease
Human disease caused by paramyxovirus
DOID:10264
C01.925.782.580.600.680.500 C07.465.815.470.800.630
Mumps
muscle neoplasm class of disease soft tissue neoplasm muscular disease
tumors or cancer located in muscle tissue or specific muscles
DOID:461
C04.588.839.500 C05.651.494
muscle tissue disease class of disease muscular disease
disease involving the muscle tissue
DOID:66
muscular atrophy
class of disease muscular disease atrophic muscular disease clinical sign
human disease
DOID:767
C10.597.613.612 C23.300.070.500 C23.888.592.608.612
Muscle wasting
musculoskeletal disorder
class of disease disease of anatomical entity disease of anatomical entity that occurs in the muscular and/or skeletal system
DOID:17
C05
Diseases and disorders of the musculoskeletal system
musculoskeletal system benign neoplasm class of disease organ system benign neoplasm musculoskeletal neoplasm organ system benign neoplasm that is located in the muscular and skeletal organs
DOID:0060099
musculoskeletal system cancer class of disease organ system cancer musculoskeletal disorder musculoskeletal neoplasm organ system cancer located in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs
DOID:0060100
mushroom workers' lung class of disease extrinsic allergic alveolitis
Human disease
DOID:2708
mycoplasma infection class of disease bacterial infectious disease primary Mycoplasmataceae infectious disease disease
bacterial infection with a species of the genus Mycoplasma
DOID:0050407 DOID:5461
C01.150.252.400.610.610
mycosis fungoides
class of disease cutaneous T cell lymphoma rare disease mycosis fungoides and variants disease
Human disease
DOID:8691
C04.557.386.480.750.800.550 C15.604.515.569.480.750.800.550 C20.683.515.761.480.750.800.550
Mycosis fungoides
mycotic corneal ulcer class of disease corneal ulcer
Human disease
DOID:10440
myelitis
class of disease spinal cord disease
spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord
DOID:322
C10.228.228.618 C10.228.854.525
Myelitis
myelodysplastic syndrome
class of disease myeloproliferative disorders neoplastic syndrome disease
diverse collection of blood-related medical conditions with ineffective production of the myeloid class of blood cells
DOID:0050908
C15.378.190.625
Myelodysplastic syndrome
myelodysplastic/myeloproliferative neoplasm class of disease myeloid neoplasm myeloid neoplasm that results in the overproduction of white blood cells
DOID:4972
myelofibrosis
class of disease myeloid neoplasm acquired aplastic anemia rare genetic immune disease disease
myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue
DOID:4971
C15.378.190.636.765
myeloid and lymphoid neoplasms associated with FGFR1 abnormalities class of disease myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint
DOID:0080167
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement class of disease myeloid neoplasm associated with PDGFRA rearrangement myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts
DOID:0080165
myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 class of disease myeloid neoplasm myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 human disease
DOID:0080164
myeloid leukemia
class of disease leukemia disease
leukemia that is located in myeloid tissue
DOID:8692
C04.557.337.539
Myeloid leukemias
myeloid leukemia associated with Down Syndrome class of disease acute megakaryoblastic leukemia
human disease
DOID:0080798
myeloid neoplasm class of disease myeloproliferative disorders
a bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.
DOID:0070004
myeloid neoplasms associated with PDGFRB rearrangement class of disease myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts
DOID:0080166
myeloid sarcoma
class of disease hematologic cancer solid tumor composed of immature white blood cells[2] called myeloblasts.
DOID:8683
C04.557.337.539.775 C04.557.450.795.853
Myeloid sarcoma
myelophthisic anemia
class of disease aplastic anemia
aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas
DOID:2354
C15.378.071.307 C15.378.190.636.085
myeloproliferative disorder, chronic, with eosinophilia class of disease myeloproliferative disorders eosinophilia myeloproliferative neoplasm human disease
DOID:0111344
myeloproliferative disorders
class of disease bone marrow disease tumor of hematopoietic and lymphoid tissues connective tissue neoplasm hematologic cancer disease
hematopoietic disorders that derive from the blood-forming stem cells of the bone marrow
DOID:4960
C15.378.190.636
Myeloid neoplasms
myeloproliferative neoplasm class of disease myeloid neoplasm myeloproliferative disorders
myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood
DOID:2226
myoblastoma class of disease muscle neoplasm human disease
DOID:5039
myocardial stunning
class of disease myocardial infarction
state when some section of the myocardium (corresponding to area of a major coronary occlusion) shows a form of contractile abnormality
DOID:9767
C14.280.671 C23.888.582
myocarditis
class of disease symptom or sign
extrinsic cardiomyopathy myocardial disorder pancarditis cardiovascular system symptom disease
extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle
DOID:820
C14.280.238.625
Myocarditis
myocardium cancer class of disease neoplasm of myocardium heart cancer
human disease
DOID:9299
myoclonic cerebellar dyssynergia
class of disease neurodegeneration nervous system heredodegenerative disease Ramsay Hunt syndrome
degenerative, neurological disorder characterized by myoclonus epilepsy, intention tremor, progressive ataxia and occasionally cognitive impairment
DOID:12707
C10.228.140.252.700.250 C10.228.854.787.500 C10.574.500.825.250 C16.320.400.780.500
myoclonic dystonia 11 class of disease myoclonic dystonia genetic disease autosomal dominant disease myoclonic dystonia characterized by autosomal dominant inheritance and association with psychiatric disorder that has material basis in heterozygous mutation in the SGCE gene on chromosome 7q21
DOID:0090034
myoclonic dystonia 15 class of disease myoclonic dystonia genetic disease autosomal dominant disease myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11
DOID:0090035
myoepithelial carcinoma class of disease carcinoma
carcinoma that derives from myoepithelial cells
DOID:4838
myoepithelioma of the head and neck
class of disease sweat gland neoplasm neoplasm composed of outgrowths of myoepithelial cells from a sweat gland
DOID:2661
C04.557.435.585
Myoepithelioma of the head and neck
myofascial pain syndrome
class of disease muscular disease medically unexplained physical symptom myalgia disease
human disease
DOID:431
C05.651.550
myofibrillar myopathy class of disease muscular disease
myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles
DOID:0080307
myofibrillar myopathy 10 class of disease autosomal recessive disease myofibrillar myopathy human disease
DOID:0112108
myofibrillar myopathy 3 class of disease myofibrillar myopathy autosomal dominant disease Human disease
DOID:0080094
myofibroma class of disease connective tissue neoplasm benign perivascular tumor connective tissue benign neoplasm Human disease
DOID:4386
C04.557.450.565.540 C17.300.680.540
myoma
class of disease muscle neoplasm uterine benign neoplasm disease
human disease
DOID:2691
C04.557.450.590.540
Uterine fibroids
myopathy of extraocular muscle class of disease peripheral neuropathy rare eye disease muscular disease
myopathy that involves the extra-ocular muscle
DOID:929
myopathy, lactic acidosis, and sideroblastic anemia 1 class of disease myopathy, lactic acidosis, and sideroblastic anemia human disease
DOID:0111185
myopathy, lactic acidosis, and sideroblastic anemia 2 class of disease myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has material basis in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
DOID:0111186
myopathy, lactic acidosis, and sideroblastic anemia 3 class of disease myopathy, lactic acidosis, and sideroblastic anemia human disease
DOID:0111184
myopathy, myofibrillar, 11 class of disease myofibrillar myopathy human disease
DOID:0081338
myopia
class of disease symptom or sign
refractive error visual impairment disease
visual defect which causes to see the near objects clearly and far objects unclearly
DOID:11830
C11.744.636
Myopia
myosarcoma
class of disease musculoskeletal system cancer muscle tissue neoplasm muscular disease
musculoskeletal system cancer that is located in muscle
DOID:4045
C04.557.450.590.550 C04.557.450.795.550
myositis
class of disease muscular disease inflammation disease
myopathy characterized by muscle inflammation
DOID:633
C05.651.594 C10.668.491.562
myositis fibrosa class of disease myositis
Human disease
DOID:9788
myositis ossificans
class of disease myositis heterotopic ossification
myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles
DOID:668
C05.651.594.638
myotonic cataract class of disease cataract
Human disease
DOID:82
myotonic disease class of disease muscular dystrophy
muscular dystrophy characterized by progressive muscle wasting and weakness
DOID:450
C05.651.662 C10.668.491.606
myringitis bullosa hemorrhagica class of disease tympanic membrane disease disease
tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection
DOID:13791
myxedema
class of disease hypothyroidism mucinosis disease
Human disease
DOID:11634
C17.300.550.590 C19.874.482.638
Myxedema
myxofibrosarcoma
class of disease fibrous histiocytoma skeletal muscle cancer rare nervous system tumor peripheral neuropathy fibrosarcoma fibromyxoid tumor sarcoma
A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
DOID:0080534
myxoid chondrosarcoma
class of disease chondrosarcoma myxoid tumor
human disease
DOID:5861
myxoid leiomyosarcoma class of disease leiomyosarcoma
Human disease
DOID:5268
myxoid liposarcoma of the ovary class of disease liposarcoma of the ovary myxoid liposarcoma
Human disease
DOID:8023
myxomatous pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:8081
myxopapillary ependymoma class of disease benign ependymoma human disease
DOID:5075
myxosarcoma
class of disease sarcoma connective tissue neoplasm
human disease
DOID:4136
C04.557.450.565.560 C04.557.450.795.560
nail disease
class of disease integumentary system disease integumentary system disease that is located in nail
DOID:4123
C17.800.529
Diseases and disorders of the nails
nanophthalmos class of disease microphthalmia
human disease
DOID:0080634
narcissistic personality disorder
class of disease personality disorder narcissism disease
personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity
DOID:2745
F03.675.500
Narcissistic personality disorder
narcolepsy
class of disease disease sleep disorder excessive daytime sleepiness
Human sleep disorder that involves an excessive urge to sleep and other neurological features
DOID:8986
C10.886.425.800.200.750 F03.870.400.800.200.750
Narcolepsy
nasal cavity cancer class of disease sensory system cancer nasal cancer nasal cavity neoplasm nasal cavity disease respiratory system cancer
respiratory system cancer that is located in the nasal cavity
DOID:10811
nasal cavity disease class of disease nose disease respiratory disease
DOID:2163
nasal cavity lymphoma class of disease nasal cavity cancer lymphoma
human disease
DOID:10813
nasal cavity olfactory neuroblastoma class of disease nasal cavity cancer esthesioneuroblastoma
Human disease
DOID:10812
nasopharyngeal disease class of disease upper respiratory tract disease pharyngeal diseases respiratory disease
DOID:9561
C07.550.350 C09.775.350
nasopharyngitis class of disease nasopharyngeal disease respiratory disease
DOID:10460
C07.550.350.700 C07.550.781.500 C08.730.561.500 C09.775.350.700 C09.775.649.500
natural killer cell leukemia
class of disease lymphoblastic leukemia leukocyte disease rare bone disease immune disorder disease
Human disease
DOID:1035
near-fatal asthma class of disease acute asthma human disease
DOID:0080823
necrobiosis lipoidica
class of disease skin disease diabetic dermadrome necrobiotic disorders human disease
DOID:3486
C17.300.200.495.545 C17.800.550.545 C17.800.849.495 C18.452.880.495
Necrobiosis lipoidica
necrosis of ear ossicle class of disease middle ear disease ear disease
Human disease
DOID:11783
necrosis of pituitary class of disease pituitary gland disease
endocrine disease
DOID:3646
necrotizing enterocolitis
class of disease gastrointestinal system disease disease
human disease
DOID:8677
C06.405.205.596.700 C06.405.469.363.700
Neonatal necrotizing enterocolitis
necrotizing fasciitis
class of disease symptom or sign
fasciitis necrotizing soft tissue infection disease
infection that results in the death of the body's soft tissue
DOID:9602
C01.252.825.340 C05.321.550
Necrotizing fasciitis
File:Necrotizing fasciitis left leg.JPEG
necrotizing gastritis class of disease gastritis necrosis chronic gastritis
Human disease
DOID:4037
necrotizing sialometaplasia
class of disease salivary gland disease disease
Human disease
DOID:12901
C07.465.815.802
Necrotizing sialometaplasia
nemaline myopathy 2 class of disease nemaline myopathy genetic disease autosomal recessive disease nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23
DOID:0110928
nemaline myopathy 3 class of disease nemaline myopathy genetic disease autosomal recessive disease nemaline myopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42
DOID:0110927
neomycin sulfate allergic contact dermatitis class of disease allergic contact dermatitis drug allergy
allergic contact dermatitis that has allergic trigger neomycin sulfate
DOID:0040067
neonatal anemia class of disease anemia
Human disease
DOID:11244
C15.378.071.363 C16.614.053
neonatal diabetes mellitus
class of disease diabetes neonatal metabolic disturbances rare genetic diabetes mellitus It is a congenital form of diabetes
DOID:11717
neonatal infective mastitis class of disease mastitis perinatal infectious disease
Human disease
DOID:13520
neonatal jaundice
class of disease pigmentation disorder jaundice neonatal hyperbilirubinemia disease
pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant
DOID:2383
C16.614.451.500 C23.550.429.249.500
Neonatal jaundice
neonatal leukemia class of disease childhood leukemia perinatal disease Human disease
DOID:7756
neonatal myasthenia gravis class of disease myasthenia gravis
Human disease
DOID:14043
C10.114.656.650 C10.668.758.725.650 C20.111.258.500.650
neonatal period electroclinical syndrome class of disease electroclinical syndrome perinatal disease electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age
DOID:0050702
neonatal thyrotoxicosis class of disease thyrotoxicosis endocrine disease
DOID:12573
neonatal urinary tract infectious disease class of disease urinary system disease urinary tract infection in children perinatal infectious disease
Human disease
DOID:1375
neonatal-onset type II citrullinemia class of disease citrullinemia autosomal recessive disease citrullinemia type II human disease
DOID:0070341
neovascular glaucoma class of disease glaucoma glaucoma associated with vascular disorder rare acquired eye disease Human disease
DOID:1687
C11.525.381.348
nephritis
class of disease symptom or sign
urological symptom disease
inflammation of the kidneys
DOID:10952
C12.777.419.570 C13.351.968.419.570
Nephritis
nephrocalcinosis
class of disease kidney disease calcinosis
Human disease
DOID:12679
C12.050.351.968.419.590 C12.200.777.419.590 C18.452.174.130.560 C12.950.419.590
Nephrocalcinosis
nephrogenic adenofibroma class of disease kidney benign neoplasm Human disease
DOID:2698
nephrogenic adenoma of the urethra class of disease urethral benign neoplasm nephrogenic adenoma adenoma
Human disease
DOID:8109
nephrogenic adenoma of urinary bladder class of disease bladder benign neoplasm nephrogenic adenoma adenoma
Human disease
DOID:7333
nephrogenic diabetes insipidus type 2 class of disease autosomal dominant disease nephrogenic diabetes insipidus autosomal recessive disease human disease
DOID:0081061
nephrolithiasis class of disease kidney disease kidney stone disease
Human disease
DOID:585
C12.200.777.419.600 C12.200.777.967.249 C12.050.351.968.419.600 C12.050.351.968.967.249 C12.950.419.600 C12.950.967.249
nephroma class of disease kidney benign neoplasm kidney cortex disease human disease
DOID:0080615
nephronophthisis
class of disease autosomal recessive disease medullary cystic kidney disease kidney disease
congenital disorder of urinary system
DOID:12712
Nephronophthisis
nephronophthisis 1 class of disease nephronophthisis
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13
DOID:0111112
nephropathia epidemica
class of disease hemorrhagic fever with renal syndrome
human disease
DOID:0050201
nephrosclerosis
class of disease renal hypertension disease
medical condition referring to damage to the kidney due to chronic high blood pressure
DOID:11664
C12.777.419.610 C13.351.968.419.610
nephrosis
class of disease proteinuria kidney disease
non-inflammatory kidney disease
DOID:2527
C12.777.419.630 C13.351.968.419.630
Nephrosis
nephrotic syndrome 14 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0080265
nephrotic syndrome 15 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0080271
nephrotic syndrome 16 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0080272
nephrotic syndrome type 1 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has material basis in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13
DOID:0080390
nephrotic syndrome type 17 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome that has material basis in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25
DOID:0080392
nephrotic syndrome type 18 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome that has material basis in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42
DOID:0080393
nephrotic syndrome type 19 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome that has material basis in compound heterozygous mutation in the NUP160 gene on chromosome 11p11
DOID:0080394
nephrotic syndrome type 2 class of disease familial nephrotic syndrome autosomal recessive disease nephrotic syndrome
human disease
DOID:0080379
nephrotic syndrome type 20 class of disease familial nephrotic syndrome
human disease
DOID:0070357
nephrotic syndrome type 22 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0112268
nephrotic syndrome type 3 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has material basis in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23
DOID:0080382
nephrotic syndrome type 5 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has material basis in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p
DOID:0080380
nephrotic syndrome type 7 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0080388
nephrotic syndrome type 8 class of disease familial nephrotic syndrome autosomal recessive disease familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has material basis in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25
DOID:0080389
nephrotic syndrome, type 10 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0080386
nephrotic syndrome, type 4 class of disease nephrotic syndrome familial nephrotic syndrome autosomal dominant disease human disease
DOID:0080383
nephrotic syndrome, type 6 class of disease familial nephrotic syndrome autosomal recessive disease human disease
DOID:0080384
nephrotic syndrome, type 9 class of disease familial nephrotic syndrome
human disease
DOID:0080391
nerve compression syndrome
class of disease peripheral neuropathy
Human disease
DOID:573
C10.668.829.550
Nerve compression syndromes
nerve fibre bundle defect class of disease visual pathway disease retinal disease
Human disease
DOID:5678
nerve plexus neoplasm class of disease peripheral nervous system neoplasm plexopathy
Human disease
DOID:4693
nerve root neoplasm class of disease peripheral nervous system neoplasm radiculopathy
Human disease
DOID:4698
nerve sheath neoplasms
class of disease peripheral nervous system neoplasm neoplasm
peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves
DOID:3193
C04.557.580.600 C10.551.775.500 C10.668.829.725.500
nervous system benign neoplasm class of disease organ system benign neoplasm neurological disorder nervous system neoplasm
organ system benign neoplasm that is located in the central nervous system or located in the peripheral nervous system
DOID:0060115
nervous system cancer class of disease organ system cancer nervous system neoplasm neurological disorder
organ system cancer located in the nervous system that affects the central or peripheral nervous system
DOID:3093
Nervous system neoplasms
nervous system hibernoma class of disease nervous system cancer hibernoma central nervous system lipoma Human disease
DOID:6607
nervous system malformations
class of disease congenital disorder central nervous system disease neurological disorder disease
congenital conditions that stem from damage to, or abnormal development of, the budding nervous system
DOID:2490
C10.500 C16.131.666
Congenital diseases and disorders of the nervous system
nested variant infiltrating bladder urothelial carcinoma class of disease invasive bladder transitional cell carcinoma human disease
DOID:7969
neurilemmoma
class of disease neuroma disease
benign tumor of the nerve sheat composed of Schwann cells
DOID:3192
C04.557.465.625.650.595 C04.557.580.600.610.595 C04.557.580.625.650.595
Schwannoma
neurilemmoma of the fifth cranial nerve class of disease trigeminal nerve neoplasm neurilemmoma
Human disease
DOID:3202
neurilemmoma of the pleura class of disease peripheral nerve schwannoma pleural disease respiratory system benign neoplasm rare respiratory disease benign neoplasm of pleura Human disease
DOID:6564
neuritis
class of disease symptom or sign
peripheral neuropathy inflammation disease
inflammation of a nerve or the general inflammation of the peripheral nervous system
DOID:1803
C10.668.829.650
Neuritis
neuroaxonal dystrophy class of disease cerebral degeneration
Human disease
DOID:2367
C10.228.140.744
neurobehavioral disorder with prenatal alcohol exposure class of disease fetal alcohol spectrum disorders
human disease
DOID:0081052
neuroblastoma
class of disease cancer
autonomic nervous system neoplasm neuroblastic tumor disease childhood cancer
autonomic nervous system neoplasm derived from immature nerve cells
DOID:769
C04.557.465.625.600.590.650.550 C04.557.470.670.590.650.550 C04.557.580.625.600.590.650.550
Neuroblastoma
neurocirculatory asthenia
class of disease somatoform disorder
somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities.
DOID:11569
F03.080.500
neurodegeneration
class of disease central nervous system disease degenerative disease disease
central nervous system disease
DOID:1289
C10.574
Neurodegenerative diseases and disorders
neurodegeneration with brain iron accumulation
class of disease iron metabolism disease neurodegeneration genetic neurodegenerative disease with dementia neuroaxonal dystrophy neurometabolic disease metabolic disease with dementia miscellaneous movement disorder due to genetic neurodegenerative disease neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia
DOID:0110734
neurodegeneration with brain iron accumulation 2A class of disease neurodegeneration with brain iron accumulation genetic disease autosomal recessive disease human disease
DOID:0110735
neurodegeneration with brain iron accumulation 2B class of disease neurodegeneration with brain iron accumulation Infantile neuroaxonal dystrophy genetic disease autosomal recessive disease human disease
DOID:0110736
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures class of disease nervous system heredodegenerative disease neurodegeneration autosomal recessive disease hereditary disease in humans
DOID:0070352
neurodermatitis
class of disease symptom or sign
dermatitis lichen disease Human disease
DOID:3309
C17.800.174.660 C17.800.815.660
Lichen simplex chronicus
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies class of disease syndrome neurodevelopmental disorder
human disease
DOID:0070346
neurodevelopmental disorder with midbrain and hindbrain malformations class of disease syndromic intellectual disability genetic disease autosomal recessive disease human disease
DOID:0080312
neuroectodermal tumor
class of disease tumor nervous system cancer Human disease
DOID:171
C04.557.465.625 C04.557.580.625
neuroendocrine carcinoma class of disease carcinoma neuroendocrine tumor
carcinoma that derives from neuroendocrine cells
DOID:1800
C04.557.465.625.650.240 C04.557.470.200.025.370 C04.557.580.625.650.240
neuroendocrine tumor
class of disease endocrine gland cancer rare disease disease
endocrine gland cancer that has material basis in neuroendocrine cells
DOID:169
C04.557.465.625.650 C04.557.580.625.650
Neuroendocrine tumors
neurofibroma
class of disease nerve sheath neoplasms
Human disease
DOID:962
C04.557.580.600.580 C10.551.775.500.750 C10.668.829.725.500.600
Neurofibroma
neurofibroma of gallbladder class of disease neurofibroma gallbladder cancer malignant peripheral nerve neoplasm liver cancer endocrine gland cancer Human disease
DOID:5150
neurofibroma of spinal cord class of disease neurofibroma Spinal cord cancer human disease
DOID:13742
neurofibroma of the esophagus class of disease gastrointestinal system disease gastrointestinal system cancer esophageal cancer neurofibroma
Human disease
DOID:961
neurofibroma of the heart class of disease malignant peripheral nerve neoplasm neurofibroma
Human disease
DOID:9300
neurofibromatosis type I
class of disease neurofibromatoses neuro-cardio-facial-cutaneous syndromes disease
type of neurofibromatosis disease
DOID:0111253
C04.557.580.600.580.590.650 C04.700.645.650 C10.562.600.500 C10.574.500.549.400 C10.668.829.675 C16.320.400.560.400 C16.320.700.645.650
Neurofibromatosis type 1
neurofibromatosis-Noonan syndrome class of disease syndrome autosomal dominant disease Noonan syndrome and Noonan-related syndrome neurofibromatosis type I
human disease
DOID:0111683
neurofibrosarcoma class of disease neurofibroma
Human disease
DOID:3512
C04.557.450.565.590.350.590 C04.557.450.795.350.590 C04.557.580.600.580.795 C10.551.775.500.750.750 C10.668.829.725.500.600.600
neurogenic arthropathy
class of disease arthropathy disease
Human disease
DOID:14286
C05.550.186
Neuropathic arthropathy
neurogenic bladder
class of disease bladder disease urination disorder disease
Human disease
DOID:12143
C10.597.900 C12.200.777.829.839 C12.050.351.968.829.760 C23.888.592.900 C12.950.829.760C
Neurogenic bladder dysfunction
neurogenic bowel class of disease intestinal disease
Human disease
DOID:13419
C06.405.469.158.272.804
neurological disorder
class of disease disease of anatomical entity disease
disease of an anatomical entity located in the central or peripheral nervous system
DOID:0060052 DOID:863
C10
Diseases and disorders of the nervous system
neuroma
class of disease nervous system benign neoplasm peripheral nervous system neoplasm tumor
nervous system benign neoplasm that is characterized as a nerve tissue tumor
DOID:2001
C04.557.580.600.610
Neuroma
neuromuscular disease
class of disease peripheral neuropathy musculoskeletal disorder disease
neuropathy that affect the nerves that control the voluntary muscles
DOID:440
C10.668
Neuromuscular diseases
neuromuscular junction disease
class of disease neuromuscular disease
neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction
DOID:439
C10.668.758
neuronal ceroid lipofuscinosis
class of disease lipid storage disease eye degenerative disease nervous system heredodegenerative disease Human disease
DOID:14503
C10.574.500.550 C16.320.400.600 C16.320.565.398.641.509 C18.452.584.563.641.509 C18.452.648.398.641.509
neuronal ceroid lipofuscinosis 1 class of disease neuronal ceroid lipofuscinosis Infantile neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease juvenile neuronal ceroid lipofuscinosis adult neuronal ceroid lipofuscinosis genetic disease
human disease
DOID:0110721
neuronal ceroid lipofuscinosis 10 class of disease neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease adult neuronal ceroid lipofuscinosis congenital neuronal ceroid lipofuscinosis genetic disease
neuronal ceroid lipofuscinosis that has material basis in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15
DOID:0110725
neuronal ceroid lipofuscinosis 2 class of disease neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease genetic disease
A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
DOID:0110726
neuronal ceroid lipofuscinosis 3 class of disease neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis genetic disease
A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
DOID:0110731
neuronal ceroid lipofuscinosis 4A class of disease neuronal ceroid lipofuscinosis adult neuronal ceroid lipofuscinosis genetic disease Kufs disease
human disease
DOID:0110730
neuronal ceroid lipofuscinosis 5 class of disease neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease genetic disease
human disease
DOID:0110728
neuronal ceroid lipofuscinosis 6 class of disease neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease adult neuronal ceroid lipofuscinosis genetic disease
human disease
DOID:0110729
neuronal ceroid lipofuscinosis 7 class of disease neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease genetic disease
human disease
DOID:0110722
neuronal ceroid lipofuscinosis 8 class of disease neuronal ceroid lipofuscinosis Jansky–Bielschowsky disease juvenile neuronal ceroid lipofuscinosis genetic disease
human disease
DOID:0110723
neuronal ceroid lipofuscinosis 9 class of disease neuronal ceroid lipofuscinosis juvenile neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures
DOID:0110733
neuronal intestinal dysplasia
class of disease colonic disease intestinal pseudo-obstruction intestinal dysganglionosis Human disease
DOID:0080072
neuronal intestinal dysplasia type A class of disease neuronal intestinal dysplasia
human disease
DOID:0080679
neuronal intestinal dysplasia type B class of disease neuronal intestinal dysplasia
human disease
DOID:0080680
neuronitis
class of disease central nervous system disease neurological disorder inflammatory disease disease
central nervous system disease that is characterized by neuron inflammation
DOID:8117
neuronopathy, distal hereditary motor, type 5B class of disease nervous system heredodegenerative disease distal hereditary motor neuronopathy type 5 human disease
DOID:0111205
neurooculocardiogenitourinary syndrome class of disease syndrome autosomal dominant disease human disease
DOID:0111675
neuropathy class of disease neurological disorder
disease of or damage to the nerves
DOID:870
Neuropathies
neuroretinitis class of disease optic papillitis focal chorioretinitis eye disease
Human disease
DOID:10176
neurosarcoidosis
class of disease sarcoidosis central nervous system disease
disease with granulomas invoving nervous tissue
DOID:13403
Neurosarcoidosis
neurotrophic keratoconjunctivitis class of disease keratoconjunctivitis
Human disease
DOID:12125
neutropenia
class of disease agranulocytosis disease
abnormally low concentration of neutrophils in the blood
DOID:1227
C15.378.553.546.184.564 C15.378.243.750.184.564
Neutropenia
nevoid basal cell carcinoma syndrome
class of disease symptom or sign
autosomal dominant disease syndrome
an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma
DOID:2512
C04.182.089.530.690.150 C04.557.470.200.165.150 C04.557.470.565.165.150 C04.700.175 C05.116.099.105 C05.500.470.690.150 C07.320.450.670.130 C16.131.077.130 C16.320.700.175
nickel allergic asthma class of disease allergic asthma nickel sensitivity metal allergy
allergic asthma that has allergic trigger nickel atom
DOID:0040045
night blindness
class of disease eye disease retinal disease vision disorder disease
condition making it difficult or impossible to see in relatively low light
DOID:8499
C11.966.671
Nyctalopia
nipple carcinoma class of disease breast carcinoma malignant neoplasm of nipple breast carcinoma that is located in the nipple
DOID:6629
nipple duct carcinoma class of disease nipple carcinoma nipple carcinoma that is located in the nipple duct
DOID:7953
nipple neoplasm class of disease breast benign neoplasm Human disease
DOID:3003
nocturnal asthma class of disease chronic asthma human disease
DOID:0080826
nodal marginal zone B cell lymphoma
class of disease marginal zone B-cell lymphoma
marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease
DOID:0080211
nodular basal cell carcinoma class of disease basal-cell carcinoma
Human disease
DOID:4280
nodular degeneration of cornea class of disease corneal degeneration Human disease
DOID:2879
nodular episcleritis class of disease scleral disease episcleritis
Human disease
DOID:728
nodular ganglioneuroblastoma class of disease ganglioneuroblastoma
Human disease
DOID:5193
nodular goiter class of disease goiter
Human disease
DOID:13197
C19.874.283.501
nodular hidradenoma class of disease hidradenoma
Human disease
DOID:2061
nodular medulloblastoma class of disease medulloblastoma
Human disease
DOID:3873
nodular melanoma
class of disease skin melanoma melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule
DOID:10047
Nodular melanoma
nodular nonsuppurative panniculitis
class of disease panniculitis subcutaneous tissue disease cutaneous condition characterized by recurrent subcutaneous nodules that heal with depression of the overlying skin
DOID:1525
C17.300.710.500 C17.800.566.500
nodular prostate class of disease prostatic hypertrophy
Human disease
DOID:13206
nodular tenosynovitis class of disease connective tissue benign neoplasm Human disease
DOID:2701
non specific chronic endometritis class of disease endometritis chronic endometritis Human disease
DOID:4560
non-Hodgkin lymphoma
class of disease lymphoma neoplasm hematopoietic system disease disease
type of cancer of lymph nodes
DOID:0060060
C04.557.386.480 C15.604.515.569.480 C20.683.515.761.480
Non-Hodgkin lymphomas
non-Langerhans-cell histiocytosis
class of disease histiocytosis
Human disease
DOID:4330
C15.604.250.410
non-alcoholic fatty liver class of disease non-alcoholic fatty liver disease
nonalcoholic fatty liver disease that is characterized by the presence of at least 5% of hepatic steatosis with no evidence of hepatocellular injury in the form of hepatocyte ballooning
DOID:0080546
non-alcoholic fatty liver disease
class of disease fatty liver disease disease
storing of excess fat in liver cells, not caused by heavy alcohol use
DOID:0080208
C06.552.241.519
non-alcoholic steatohepatitis class of disease non-alcoholic fatty liver disease
Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.
DOID:0080547
non-arteritic anterior ischemic optic neuropathy class of disease anterior ischemic optic neuropathy
Human disease
DOID:0050864
non-congenital cyst of kidney class of disease cystic kidney disease
Human disease
DOID:9621
non-controlled substance abuse
class of disease addiction substance use disorder social issue
abuse of chemical substances and/or abuse of any licit substances
DOID:9973
Substance dependence
non-functioning pancreatic endocrine tumor class of disease islet cell tumor non-functioning endocrine neoplasm Human disease
DOID:7698
non-gestational choriocarcinoma class of disease choriocarcinoma
Human disease
DOID:4320
C04.557.465.955.207.438 C04.557.470.200.025.455.750 C04.850.908.208.438 C13.703.720.949.208.438
non-gestational ovarian choriocarcinoma class of disease ovarian primitive germ cell tumor choriocarcinoma of ovary Human disease
DOID:7665
non-invasive bladder urothelial carcinoma class of disease bladder urothelial carcinoma human disease
DOID:6571
non-proliferative fibrocystic change of the breast class of disease breast fibrocystic disease
Human disease
DOID:5997
non-renal secondary hyperparathyroidism class of disease hyperparathyroidism secondary hyperparathyroidism
Human disease
DOID:13575
non-secretory myeloma class of disease multiple myeloma non-functioning endocrine neoplasm Human disease
DOID:9547
non-small-cell lung carcinoma
class of disease lung carcinoma lung cancer disease
any type of epithelial lung cancer other than small-cell lung carcinoma
DOID:3908
C04.588.894.797.520.109.220.249 C08.381.540.140.500 C08.785.520.100.220.500
Non-small cell lung cancer
non-suppurative otitis media class of disease otitis media
otitis media which involves transudation of fluid in the middle ear without pus formation
DOID:11180
non-syndromic X-linked intellectual disability 1 class of disease X-linked dominant disease non-syndromic X-linked intellectual disability human disease
DOID:0112038
non-syndromic X-linked intellectual disability 100 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112040
non-syndromic X-linked intellectual disability 101 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112048
non-syndromic X-linked intellectual disability 103 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112020
non-syndromic X-linked intellectual disability 104 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112018
non-syndromic X-linked intellectual disability 105 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112036
non-syndromic X-linked intellectual disability 107 class of disease X-linked dominant disease non-syndromic X-linked intellectual disability human disease
DOID:0112054
non-syndromic X-linked intellectual disability 14 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112027
non-syndromic X-linked intellectual disability 19 class of disease non-syndromic X-linked intellectual disability X-linked dominant disease human disease
DOID:0112019
non-syndromic X-linked intellectual disability 2 class of disease X-linked dominant disease non-syndromic X-linked intellectual disability human disease
DOID:0112016
non-syndromic X-linked intellectual disability 20 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112023
non-syndromic X-linked intellectual disability 21 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112022
non-syndromic X-linked intellectual disability 23 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112049
non-syndromic X-linked intellectual disability 30 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112051
non-syndromic X-linked intellectual disability 41 class of disease X-linked dominant disease non-syndromic X-linked intellectual disability human disease
DOID:0112058
non-syndromic X-linked intellectual disability 42 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112057
non-syndromic X-linked intellectual disability 45 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112028
non-syndromic X-linked intellectual disability 46 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112055
non-syndromic X-linked intellectual disability 50 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112029
non-syndromic X-linked intellectual disability 53 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112047
non-syndromic X-linked intellectual disability 58 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112024
non-syndromic X-linked intellectual disability 63 class of disease non-syndromic X-linked intellectual disability X-linked dominant disease human disease
DOID:0112050
non-syndromic X-linked intellectual disability 72 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112059
non-syndromic X-linked intellectual disability 73 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112017
non-syndromic X-linked intellectual disability 77 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112039
non-syndromic X-linked intellectual disability 81 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112033
non-syndromic X-linked intellectual disability 82 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112052
non-syndromic X-linked intellectual disability 84 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112030
non-syndromic X-linked intellectual disability 88 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112053
non-syndromic X-linked intellectual disability 89 class of disease X-linked dominant disease non-syndromic X-linked intellectual disability human disease
DOID:0112031
non-syndromic X-linked intellectual disability 9 class of disease non-syndromic X-linked intellectual disability X-linked recessive disease human disease
DOID:0112034
non-syndromic X-linked intellectual disability 90 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112041
non-syndromic X-linked intellectual disability 91 class of disease non-syndromic X-linked intellectual disability X-linked dominant disease human disease
DOID:0112043
non-syndromic X-linked intellectual disability 92 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112032
non-syndromic X-linked intellectual disability 93 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112045
non-syndromic X-linked intellectual disability 96 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112035
non-syndromic X-linked intellectual disability 97 class of disease non-syndromic X-linked intellectual disability human disease
DOID:0112046
non-syndromic X-linked intellectual disability 98 class of disease non-syndromic X-linked intellectual disability X-linked dominant disease human disease
DOID:0112044
non-syndromic X-linked intellectual disability 99 class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112026
non-syndromic X-linked intellectual disability ARX-related class of disease X-linked recessive disease non-syndromic X-linked intellectual disability human disease
DOID:0112021
nonencapsulated sclerosing carcinoma class of disease papillary thyroid cancer
Human disease
DOID:5914
noninfectious dermatoses of eyelid class of disease blepharitis
Human disease
DOID:1894
noninvasive malignant thymoma class of disease thymoma
Human disease
DOID:7214
nonossifying fibromyxoid tumor class of disease mesenchymal cell neoplasm fibromyxoid tumor Human disease
DOID:8305
nonphotosensitive trichothiodystrophy class of disease trichothiodystrophy human disease
DOID:0111867
nonsyndromic aplasia cutis congenita class of disease skin disease aplasia cutis congenita
human disease
DOID:0080661
nonsyndromic congenital nail disorder class of disease nail disease
human disease
DOID:0080683
nonsyndromic congenital nail disorder 1 class of disease nail disease Twenty-nail dystrophy inherited isolated nail anomaly epidermal disease nonsyndromic congenital nail disorder autosomal dominant disease Human disease
DOID:0080079
nonsyndromic congenital nail disorder 2 class of disease nail disease inherited isolated nail anomaly nonsyndromic congenital nail disorder autosomal dominant disease Human disease
DOID:0080080
nonsyndromic congenital nail disorder 5 class of disease nail disease inherited isolated nail anomaly nonsyndromic congenital nail disorder autosomal dominant disease Human disease
DOID:0080083
nonsyndromic congenital nail disorder 6 class of disease nail disease autosomal dominant disease nonsyndromic congenital nail disorder Human disease
DOID:0080084
nonsyndromic congenital nail disorder 7
class of disease nail disease epidermal disease inherited isolated nail anomaly nonsyndromic congenital nail disorder autosomal dominant disease Human disease
DOID:0080085
nonsyndromic congenital nail disorder 9 class of disease nail disease inherited isolated nail anomaly autosomal recessive disease nonsyndromic congenital nail disorder Human disease
DOID:0080087
nontoxic goiter class of disease goiter
Human disease
DOID:13195
normal pressure hydrocephalus
class of disease communicating hydrocephalus nervous system heredodegenerative disease genetic dementia disease
condition in which there is excess cerebrospinal fluid in the ventricles, and with normal or slightly elevated cerebrospinal fluid pressure
DOID:1572
C10.228.140.602.750
Normal pressure hydrocephalus
normocytic anemia
class of disease anemia
Human disease
DOID:720
norwegian scabies class of disease scabies
Human disease
DOID:14374
Crusted scabies
nose disease class of disease upper respiratory tract disease disease
respiratory disease
DOID:2825
C08.460 C09.603
Diseases and disorders of the nose and paranasal sinuses
notochordal cancer class of disease bone cancer embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located in the notochord
DOID:3303
nuclear senile cataract class of disease senile cataract nuclear sclerosis
Human disease
DOID:13963
nuclear type mitochondrial complex I deficiency class of disease mitochondrial complex I deficiency human disease
DOID:0112065
nuclear type mitochondrial complex I deficiency 1 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112074
nuclear type mitochondrial complex I deficiency 10 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112075
nuclear type mitochondrial complex I deficiency 11 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112089
nuclear type mitochondrial complex I deficiency 12 class of disease nuclear type mitochondrial complex I deficiency X-linked recessive disease human disease
DOID:0112099
nuclear type mitochondrial complex I deficiency 13 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112076
nuclear type mitochondrial complex I deficiency 14 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112094
nuclear type mitochondrial complex I deficiency 15 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112077
nuclear type mitochondrial complex I deficiency 16 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112096
nuclear type mitochondrial complex I deficiency 17 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112078
nuclear type mitochondrial complex I deficiency 18 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112070
nuclear type mitochondrial complex I deficiency 19 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112085
nuclear type mitochondrial complex I deficiency 2 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112083
nuclear type mitochondrial complex I deficiency 20 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112072
nuclear type mitochondrial complex I deficiency 21 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112088
nuclear type mitochondrial complex I deficiency 22 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112069
nuclear type mitochondrial complex I deficiency 23 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112087
nuclear type mitochondrial complex I deficiency 24 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112079
nuclear type mitochondrial complex I deficiency 25 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112067
nuclear type mitochondrial complex I deficiency 26 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112086
nuclear type mitochondrial complex I deficiency 27 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112090
nuclear type mitochondrial complex I deficiency 28 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112095
nuclear type mitochondrial complex I deficiency 29 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112084
nuclear type mitochondrial complex I deficiency 3 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112093
nuclear type mitochondrial complex I deficiency 30 class of disease nuclear type mitochondrial complex I deficiency X-linked recessive disease human disease
DOID:0112098
nuclear type mitochondrial complex I deficiency 31 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112071
nuclear type mitochondrial complex I deficiency 32 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112080
nuclear type mitochondrial complex I deficiency 33 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112097
nuclear type mitochondrial complex I deficiency 34 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112091
nuclear type mitochondrial complex I deficiency 35 class of disease autosomal recessive disease mitochondrial complex I deficiency nuclear type mitochondrial complex I deficiency human disease
DOID:0112139
nuclear type mitochondrial complex I deficiency 4 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112082
nuclear type mitochondrial complex I deficiency 5 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112068
nuclear type mitochondrial complex I deficiency 6 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112066
nuclear type mitochondrial complex I deficiency 7 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112092
nuclear type mitochondrial complex I deficiency 8 class of disease nuclear type mitochondrial complex I deficiency autosomal recessive disease human disease
DOID:0112081
nuclear type mitochondrial complex I deficiency 9 class of disease autosomal recessive disease nuclear type mitochondrial complex I deficiency human disease
DOID:0112073
null-cell leukemia class of disease acute lymphocytic leukemia
Human disease
DOID:9954
nutmeg liver
class of disease hepatic vascular disease human disease
DOID:13739
Congestive hepatopathy
nutrition disorder
class of disease acquired metabolic disease nutritional and metabolic diseases food-related disease disease that results from excessive or inadequate intake of food and nutrients
DOID:374
C18.654
Nutritional diseases and disorders
nutritional deficiency disease class of disease nutrition disorder deficiency
human disease
DOID:5113
C18.654.521.500
Diseases and disorders due to nutritional deficiencies
nutritional optic neuropathy
class of disease optic nerve disease optic neuritis
Human disease
DOID:1209
nystagmus, congenital, autosomal recessive class of disease congenital nystagmus autosomal recessive disease human disease
DOID:0111797
obsessive-compulsive disorder
class of disease anxiety disorder impulse control disorder genetic nervous system disorder genetic disease disease
anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)
DOID:10933
F03.080.600
Obsessive–compulsive disorder
obsessive-compulsive personality disorder
class of disease personality disorder disease
personal perfectionism at the cost of flexibility, openness, efficiency & effect on others
DOID:10932
F03.675.150
Obsessive compulsive personality disorder
obstructive hydrocephalus class of disease hydrocephalus
abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space
DOID:14159
obstructive jaundice class of disease cholestasis jaundice non-neoplastic bile duct disorder Human disease
DOID:13603
C23.550.429.500.755 C23.888.885.375.500
Obstructive jaundice
obstructive lung disease
class of disease lung disease disease
category of respiratory disease characterized by airway obstruction
DOID:2320
C08.381.495
obstructive nephropathy class of disease kidney disease
kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction
DOID:0070314
obstructive sleep apnea
class of disease sleep apnea
obstruction of the upper airway during sleep
DOID:0050848
C08.618.085.852.850 C10.886.425.800.750.850
occipital lobe neoplasm class of disease cerebrum cancer Human disease
DOID:910
occlusion of gallbladder class of disease gallbladder disease
Human disease
DOID:9714
occlusion precerebral artery class of disease cerebrovascular disease
human disease
DOID:5976
occupational asthma
class of disease occupational disease asthma environmental induced asthma medical condition caused or exacerbated by the workplace
DOID:0080820
C08.127.108.495 C08.674.095.495 C20.543.480.680.095.495 C24.102
occupational dermatitis
class of disease contact dermatitis occupational disease disease
Human disease
DOID:4404
C17.800.174.255.700 C17.800.815.255.700 C24.270
ochronosis
class of disease connective tissue disease clinical sign disease
syndrome caused by the accumulation of homogentisic acid in connective tissues
DOID:14223
C23.550.744
Ochronosis
ocular albinism
class of disease eye disease albinism disease
human disease
DOID:0050633
C11.270.040.090 C16.320.290.040.090 C16.320.565.100.102.090 C16.320.850.080.090 C17.800.621.440.102.090 C17.800.827.080.090 C18.452.648.100.102.090
ocular albinism type 2 class of disease ocular albinism eye disease X-linked recessive disease Human disease
DOID:0050630
ocular albinism with sensorineural deafness class of disease ocular albinism Waardenburg's syndrome autosomal dominant disease digenic disease human disease
DOID:0090100
ocular cancer
class of disease sensory system cancer eye tumor eye disease disease
type of cancer un the eye
DOID:2174
ocular hyperemia class of disease conjunctival disease Human disease
DOID:1248
ocular hypertension
class of disease eye disease hypertension disease
eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss
DOID:9282
C11.525
ocular hypotension
class of disease eye disease hypotension
Human disease
DOID:790
C11.540
ocular motility disease class of disease cranial nerve disease eye adnexa disease eye disease
human disease
DOID:1279
C10.228.758 C10.292.562 C11.590
ocular tuberculosis class of disease extrapulmonary tuberculosis eye disease tuberculosis
Human disease
DOID:233 DOID:0070344
C01.150.252.289.800 C01.375.354.800 C11.294.354.800
oculocutaneous albinism type 2 class of disease oculocutaneous albinism
oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13
DOID:0070096
oculocutaneous albinism type 3 class of disease oculocutaneous albinism
oculocutaneous albinism that has material basis in an autosomal recessive mutation of TYRP1 on chromosome 9p23
DOID:0070097
oculocutaneous albinism type 4 class of disease oculocutaneous albinism
An oculocutaneous albinism that has material basis in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.
DOID:0070098
oculocutaneous albinism type IA class of disease oculocutaneous albinism
An oculocutaneous albinism that has material basis in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
DOID:0070094
oculocutaneous albinism type IB class of disease oculocutaneous albinism
An oculocutaneous albinism that has material basis in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
DOID:0070095
oculocutaneous albinism type V class of disease oculocutaneous albinism
oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA5 on chromosome 4q24
DOID:0070099
oculoglandular tularemia class of disease tularemia
tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear
DOID:13226
oculogyric crisis
class of disease focal dystonia disease
focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes
DOID:0050842
oculomotor nerve paralysis
class of disease third cranial nerve disease paralytic squint Human disease
DOID:11550
C10.292.562.700 C11.590.436
Oculomotor nerve palsy
oculopharyngodistal myopathy 4 class of disease Oculopharyngodistal myopathy
human disease
DOID:0081300
odontoclasia class of disease dental caries
Human disease
DOID:11736
olecranon bursitis
class of disease enthesopathy bursitis disease
Human disease
DOID:12581
Olecranon bursitis
olfactory groove meningioma class of disease anterior cranial fossa meningioma Human disease
DOID:8057
olfactory nerve disease class of disease glossopharyngeal nerve disease encephalopathy
Human disease
DOID:367
C10.292.650
oligoasthenoteratospermia class of disease oligospermia Teratospermia asthenozoospermia male infertility
A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.
DOID:0070311
oligodendroglioma
class of disease glioma disease
type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell
DOID:3181
C04.557.465.625.600.380.590 C04.557.470.670.380.590 C04.557.580.625.600.380.590
Oligodendrogliomas
oligohydramnios
class of disease placenta disease disease
placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion
DOID:12215
C13.703.560
Oligohydramnios
oligospermia
class of disease male infertility disease
semen with abnormally low concentration of sperm
DOID:14228
C12.294.365.700.508
Oligospermia
olivopontocerebellar atrophy
class of disease neurodegeneration
group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives
DOID:14784
C10.177.575.550.375 C10.228.140.079.612.600 C10.228.140.252.700.650 C10.228.662.550.600 C10.228.854.787.750 C10.574.500.825.650 C10.574.625.600 C16.320.400.780.750
omphalocele
class of disease congenital disorder abdominal wall defect disease
physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac
DOID:0060327
Omphalocele
oncocytic breast carcinoma class of disease breast adenocarcinoma invasive breast carcinoma Human disease
DOID:6585
oophoritis
class of disease symptom or sign
ovarian disease inflammatory disease disease
human disease
DOID:10974
C13.351.500.056.630.450 C13.351.500.056.750.500 C19.391.630.450
open-angle glaucoma class of disease glaucoma
glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage
DOID:1067
C11.525.381.407
ophthalmia neonatorum class of disease gonococcal eye infectious disease bacterial conjunctivitis Human disease
DOID:9699
ophthalmia nodosa
class of disease eye disease
Human disease
DOID:9722
ophthalmomyiasis class of disease myiasis eye disease parasitic eye infection myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain
DOID:0050268
ophthalmoplegia
class of disease symptom or sign
ocular motility disease paralysis disease
Human disease
DOID:539
C10.292.562.750 C10.597.622.447 C11.590.472 C23.888.592.636.447
Ophthalmoparesis
opiate dependence class of disease substance dependence opioid use disorder
drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance
DOID:2559
opioid use disorder
class of disease addiction substance abuse opioid-related disorders disease
substance abuse disorder that involves the recurring use of opioid drugs despite negative consequences
DOID:11206
Opioid use disorder
opportunistic bacterial infectious disease class of disease bacterial infectious disease opportunistic infection
bacterial infectious disease that results in infection by bacteria in individuals whose host defense mechanisms have been compromised
DOID:0050340
opportunistic mycosis class of disease systemic mycosis opportunistic infection
A systemic mycosis that results in fungal infection located in human body of immunocompromised individuals, has material basis in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.
DOID:2473
oppositional defiant disorder
class of disease specific developmental disorder emotional and behavioral disorders disease
human disorder involving hostility and defiance
DOID:0050856
F03.625.094.475
Oppositional defiant disorder
optic atrophy 10 class of disease autosomal dominant disease optic atrophy human disease
DOID:0111434
optic atrophy 11 class of disease autosomal recessive isolated optic atrophy autosomal recessive disease optic atrophy human disease
DOID:0111436
optic atrophy 2 class of disease optic atrophy human disease
DOID:0111443
optic atrophy 4 class of disease Kjer's optic neuropathy optic atrophy autosomal dominant disease human disease
DOID:0111440
optic atrophy 5 class of disease Kjer's optic neuropathy optic atrophy autosomal dominant disease human disease
DOID:0111438
optic atrophy 6 class of disease autosomal recessive isolated optic atrophy optic atrophy autosomal recessive disease human disease
DOID:0111435
optic atrophy 9 class of disease autosomal recessive disease optic atrophy human disease
DOID:0111442
optic disk drusen
class of disease optic nerve disease
Human disease
DOID:13561
C10.292.700.450 C11.640.513
optic nerve astrocytoma class of disease optic nerve glioma optic nerve disease astrocytoma neuromuscular disease
human disease
DOID:4991
optic nerve disease
class of disease cranial nerve disease vision disorder peripheral neuropathy visual pathway disease neuro-ophthalmological disease disease
cranial nerve disease that is located in the optic nerve
DOID:1891
C10.292.700 C11.640
Optic neuropathy
optic nerve glioma
class of disease optic nerve tumor glioma visual pathway glioma brain glioma human disease
DOID:4992
C04.557.465.625.600.380.795 C04.557.470.670.380.795 C04.557.580.625.600.380.795 C04.588.614.300.600.600 C04.588.614.596.240.240.500 C10.292.225.800.500 C10.292.700.500.500 C10.551.360.500.500 C10.551.775.250.500.500 C11.640.544.500
optic neuritis
class of disease optic nerve disease eye disease encephalomyelitis disease
optic nerve disease that results in inflammation located in optic nerve which may cause a complete or partial loss of vision
DOID:1210
C10.292.700.550 C11.640.576
Optic neuritis
optic papillitis
class of disease optic neuritis
human disease
DOID:10175
oral cavity carcinoma in situ class of disease in situ carcinoma mouth cancer mouth disease carcinoma in situ of digestive organ Human disease
DOID:0050610
oral hairy leukoplakia
class of disease mouth disease oral mucosa leukoplakia disease
mouth disease characterized by a white patch on the lateral sides of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus
DOID:0060315
C01.925.256.466.313.500 C04.588.443.591.545.500 C04.834.512.513.500 C07.465.565.545.500 C23.300.816.513.500
oral leukoedema class of disease mouth disease Leukoedema
Human disease
DOID:4557
C07.465.385
oral mucosa leukoplakia class of disease mouth disease leukoplakia
Human disease
DOID:9655
C04.588.443.591.545 C04.834.512.513 C07.465.565.545 C23.300.816.513
Oral leukoplakia
oral submucous fibrosis
class of disease mouth disease rare maxillo-facial surgical disease human disease
DOID:5773
C07.465.654
oral-facial-digital syndrome
class of disease syndrome
genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of an OFD gene
DOID:4501
C05.116.099.370.652 C05.660.207.700 C16.131.077.676 C16.131.260.830.670 C16.131.621.207.700 C16.320.180.830.670 C16.320.714
orange allergy class of disease fruit allergy
fruit allergy triggered by Citrus sinensis plant fruit food product.
DOID:0060508
orbit embryonal rhabdomyosarcoma class of disease orbit rhabdomyosarcoma embryonal rhabdomyosarcoma
Human disease
DOID:3258
orbit rhabdomyosarcoma class of disease orbit sarcoma Human disease
DOID:3259
orbital cancer class of disease bone cancer orbit neoplasm orbital disease Human disease
DOID:4143
orbital cyst class of disease orbital disease Human disease
DOID:14233
orbital disease class of disease eye adnexa disease bone disease
adnexa disease that is located in the eye socket
DOID:930
C11.675
orbital granuloma class of disease chronic orbital inflammation Human disease
DOID:10499
orbital osteomyelitis class of disease acute orbital inflammation osteomyelitis
Human disease
DOID:11232
orbital periostitis class of disease acute orbital inflammation human disease
DOID:11231
orbital tenonitis
class of disease acute orbital inflammation Human disease
DOID:11233
orchitis
class of disease testicular disease inflammatory disease disease
inflammation of the testes
DOID:2518
C12.294.829.493 C19.391.829.493
Orchitis
organ system benign neoplasm class of disease benign neoplasm disease of anatomical entity benign neoplasm that is classified by the organ system from which it is arising from
DOID:0060085
organ system cancer class of disease cancer cancer by anatomical entity cancer that is classified based on the organ it starts in
DOID:0050686
C04.588
organic acidemia
class of disease amino acid metabolic disorder amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids
DOID:0060159
orofacial cleft 1 class of disease cleft lip and cleft palate autosomal dominant disease An orofacial cleft characterized by autosomal dominant inheritance that has material basis in variation in chromosome region 6p24.3.
DOID:0080395
orofacial cleft 10 class of disease cleft lip and cleft palate
orofacial cleft that has material basis in mutation in the SUMO1 gene on chromosome 2q33
DOID:0080403
orofacial cleft 11 class of disease cleft lip and cleft palate
human disease
DOID:0080404
orofacial cleft 12 class of disease cleft lip and cleft palate
An orofacial cleft that has material basis in variation in the chromosome region 8q24.3.
DOID:0080405
orofacial cleft 13 class of disease cleft lip and cleft palate autosomal dominant disease orofacial cleft characterized by autosomal doninant inhertitance that has material basis in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730
DOID:0080406
orofacial cleft 14 class of disease cleft lip and cleft palate autosomal recessive disease human disease
DOID:0080407
orofacial cleft 15 class of disease cleft lip and cleft palate
orofacial cleft that has material basis in mutation in the DLX4 gene on chromosome 17q21
DOID:0080408
orofacial cleft 2 class of disease cleft lip and cleft palate
orofacial cleft that has material basis in variation in the chromosome region 2p13
DOID:0080396
orofacial cleft 3 class of disease cleft lip and cleft palate
orofacial cleft that has material basis in variation in the chromosomal region 19q13
DOID:0080397
orofacial cleft 4 class of disease cleft lip and cleft palate
orofacial cleft that has material basis in variation in the 4q21-q31 chromosomal region
DOID:0080398
orofacial cleft 5 class of disease cleft lip and cleft palate
human disease
DOID:0080399
orofacial cleft 6 class of disease autosomal dominant disease cleft lip and cleft palate
human disease
DOID:0080593
orofacial cleft 7 class of disease cleft lip and cleft palate autosomal recessive disease orofacial cleft that has material basis in by homozygous mutation in the PVRL1 gene on chromosome 11q23
DOID:0080400
orofacial cleft 8 class of disease cleft lip and cleft palate
orofacial cleft that has material basis in heterozygous mutation in the TP63 gene on chromosome 3q28
DOID:0080401
orofacial cleft 9 class of disease cleft lip and cleft palate
An orofacial cleft that has material basis in variation in the chromosome region 13q33.1-q34.
DOID:0080402
orofaciodigital syndrome VIII class of disease oral-facial-digital syndrome X-linked recessive disease human disease
DOID:0060378
oromandibular dystonia
class of disease focal dystonia lingual-facial-buccal dyskinesia focal, segmental or multifocal dystonia focal dystonia that is characterized by distortions of the mouth and tongue.
DOID:0050843
oropharyngeal anthrax class of disease gastrointestinal anthrax human disease
DOID:0050059
orthostatic proteinuria
class of disease symptom or sign
kidney disease proteinuria
Human disease
DOID:9617
osmotic diarrhea class of disease diarrhea chronic diarrhea Human disease
DOID:0050130
ossifying fibroma
class of disease bone benign neoplasm bone benign neoplasm that is located in the mouth and results in an overgrowth of gingival tissue due to irritation or trauma
DOID:180
C04.557.450.565.575.400 C04.557.450.565.590.340.360
ossifying fibromyxoid tumour
class of disease fibromyxoid tumor mesenchymal cell neoplasm human disease
DOID:2685
osteoarticular tuberculosis class of disease extrapulmonary tuberculosis bone disease
extrapulmonary tuberculosis that results in formation of lesions located in bone
DOID:1639
C01.150.252.410.040.552.846.617.525 C01.160.886 C05.116.165.886
osteoblastoma
class of disease bone benign neoplasm osteogenic neoplasm disease
Human disease
DOID:0060098
C04.557.450.565.575.600
Osteoblastoma
osteochondrodysplasia
class of disease bone development disease bone development disease that results in defective development of cartilage or bone
DOID:2256
C05.116.099.708 C16.320.728
Osteochondrodysplasias
osteochondrosis
class of disease symptom or sign
ischemic bone disease disease
ischemic bone disease that results in necrosis followed by regrowth in children and teens located in bone
DOID:8125
C05.116.821
Osteochondrosis
osteoclast-like giant cell neoplasm of the pancreas class of disease pancreatic ductal adenocarcinoma undifferentiated pancreatic carcinoma Human disease
DOID:7718
osteogenesis imperfecta 21 class of disease osteogenesis imperfecta
human disease
DOID:0112201
osteogenesis imperfecta type 1 class of disease osteogenesis imperfecta genetic disease autosomal dominant disease An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
DOID:0110334
osteogenesis imperfecta type 16 class of disease osteogenesis imperfecta
osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11
DOID:0110345
osteogenesis imperfecta type 18 class of disease autosomal recessive disease osteogenesis imperfecta
human disease
DOID:0111848
osteogenesis imperfecta type 20 class of disease autosomal recessive disease osteogenesis imperfecta
human disease
DOID:0111849
osteogenesis imperfecta type 3 class of disease osteogenesis imperfecta genetic disease autosomal dominant disease An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
DOID:0110339
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures class of disease osteogenesis imperfecta dentinogenesis imperfecta blue sclera osteogenesis imperfecta found in a single South African family
DOID:0110335
osteomalacia
class of disease bone remodeling disease disease
bone remodeling disease that has material basis in a vitamin D deficiency which results in softening located in bone
DOID:10573
C05.116.198.816.640 C18.452.104.816.640 C18.452.174.845.640 C18.654.521.500.133.770.734.640
osteomyelitis
class of disease bone inflammation disease infectious disease disease
bone inflammation disease that has material basis in infection located in bone or located in bone marrow
DOID:1019
C01.160.495 C05.116.165.495
Osteomyelitis
osteonecrosis
class of disease symptom or sign
necrosis ischemic bone disease disease
bone death caused when the bone no longer receives blood supply
DOID:10159
C05.116.852 C23.550.717.732
Aseptic osteonecrosis
osteopoikilosis
class of disease osteosclerosis
osteosclerosis that results in numerous bone islands located in skeleton
DOID:11991
C05.116.099.708.702.685 C17.300.705
Osteopoikilosis
osteoporosis
class of disease bone resorption disease disease
bone resorption disease characterized by the thinning of bone tissue and decreased mechanical strength
DOID:11476
C05.116.198.579 C18.452.104.579
Osteoporosis
osteosarcoma
class of disease bone cancer cell type cancer bone sarcoma osteogenic neoplasm disease childhood cancer
bone cancer that is located in bone that has material basis in cells of mesenchymal origin
DOID:3347
C04.557.450.565.575.650 C04.557.450.795.620
Osteosarcoma
osteosarcoma arising in bone Paget's disease class of disease bone osteosarcoma mammary Paget's disease
Human disease
DOID:7542
osteosclerosis
class of disease bone remodeling disease disease
bone remodeling disease that results in abnormal elevated bone density or mass
DOID:4254
C05.116.099.708.702
otomycosis
class of disease symptom or sign
otitis externa dermatomycosis disease
human disease
DOID:0050147
C01.150.703.658 C09.218.736
Otomycosis
otopalatodigital syndrome spectrum disorder class of disease bone development disease
DOID:0111782
otosclerosis
class of disease inner ear disease disease
otitis interna characterized by an abnormal bone growth in the middle ear
DOID:12185
C09.218.768
Otosclerosis
otospondylomegaepiphyseal dysplasia, autosomal dominant class of disease osteochondrodysplasia autosomal dominant disease human disease
DOID:0080677
outlet dysfunction constipation class of disease constipation
Human disease
DOID:2088
ovarian Brenner tumor class of disease ovarian benign neoplasm ovarian benign neoplasm that has material basis in the surface epithelium of the ovary
DOID:2636
Brenner tumour
ovarian Wilms' cancer class of disease ovarian cancer
malignant neoplasm of ovary and nephroblastoma that is located in the ovaries
DOID:2153
ovarian angiosarcoma class of disease angiosarcoma ovary sarcoma sarcoma ovarian cancer
human disease
DOID:4527
ovarian benign neoplasm class of disease female reproductive organ benign neoplasm ovarian neoplasm endocrine organ benign neoplasm ovarian disease
human disease
DOID:0060112
Benign neoplasms of the ovary
ovarian biphasic or triphasic teratoma class of disease ovarian germ cell teratoma Human disease
DOID:6232
ovarian cancer
class of disease female reproductive organ cancer ovarian neoplasm ovarian disease endocrine gland cancer rare genetic endocrine disease inherited gynecological tumor disease
female reproductive organ cancer that is located in the ovary
DOID:2394
Ovarian cancer
ovarian carcinoma class of disease malignant ovarian surface epithelial-stromal neoplasm carcinoma
human disease
DOID:4001
ovarian carcinosarcoma class of disease malignant ovarian surface epithelial-stromal neoplasm carcinosarcoma mixed Müllerian tumor
Human disease
DOID:6170
ovarian clear cell adenocarcinoma class of disease ovary adenocarcinoma clear cell adenocarcinoma
Human disease
DOID:5304
ovarian clear cell adenofibroma class of disease ovarian benign neoplasm Human disease
DOID:5897
ovarian clear cell cystadenocarcinoma class of disease ovarian cystadenocarcinoma ovarian clear cell adenocarcinoma Human disease
DOID:7438
ovarian clear cell cystadenofibroma class of disease ovarian clear cell adenofibroma clear cell cystadenofibroma Human disease
DOID:5896
ovarian clear cell malignant adenofibroma class of disease ovarian cancer
Human disease
DOID:6554
ovarian cyst
class of disease ovarian disease ovarian neoplasm disease
fluid-filled sac in the ovary
DOID:5119
C04.182.612 C13.351.500.056.630.580 C19.391.630.580
Ovarian cysts
ovarian cystadenocarcinoma class of disease ovary adenocarcinoma cystadenocarcinoma ovarian cystadenoma
human disease
DOID:3605
ovarian cystadenoma
class of disease ovarian benign neoplasm benign epithelial neoplasm human disease
DOID:3269
ovarian cystic teratoma class of disease mature teratoma of the ovary Human disease
DOID:5118
Mature cystic teratoma of ovary
ovarian disease
class of disease female reproductive system disease gonadal disease adnexal disease Human disease
DOID:1100
C13.351.500.056.630 C19.391.630
Diseases and disorders of ovaries
ovarian dysfunction class of disease ovarian disease
Human disease
DOID:1414
ovarian dysgenesis 1 class of disease autosomal recessive disease 46 XX gonadal dysgenesis
46 XX gonadal dysgenesis that has material basis in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16
DOID:0080493
ovarian dysgenesis 4 class of disease autosomal recessive disease 46 XX gonadal dysgenesis
46 XX gonadal dysgenesis that has material basis in homozygous mutation in the MCM9 gene on chromosome 6q22
DOID:0080496
ovarian dysgenesis 5 class of disease autosomal recessive disease 46 XX gonadal dysgenesis
46 XX gonadal dysgenesis that has material basis in homozygous mutation in the SOHLH1 gene on chromosome 9q34
DOID:0080497
ovarian dysgenesis 6 class of disease autosomal recessive disease 46 XX gonadal dysgenesis
46 XX gonadal dysgenesis that has material basis in homozygous mutation in the NUP107 gene on chromosome 12q15
DOID:0080498
ovarian dysgenesis 7 class of disease autosomal recessive disease 46 XX gonadal dysgenesis
46 XX gonadal dysgenesis that has material basis in homozygous mutation in the MRPS22 gene on chromosome 3q23
DOID:0080499
ovarian dysgenesis 8 class of disease 46 XX gonadal dysgenesis autosomal dominant disease 46 XX gonadal dysgenesis that has material basis in heterozygous mutation in the ESR2 gene on chromosome 14q23
DOID:0080500
ovarian embryonal carcinoma class of disease embryonal carcinoma malignant non-dysgerminomatous germ cell tumor of ovary ovarian cancer
embryonal carcinoma that is located in the ovary
DOID:5681
ovarian endodermal sinus tumor class of disease ovarian primitive germ cell tumor malignant non-dysgerminomatous germ cell tumor of ovary endodermal sinus tumor
Human disease
DOID:5350
ovarian endometrial cancer class of disease surface epithelial-stromal tumor Endometrioid tumor female reproductive endometrioid cancer ovary epithelial cancer that has material basis in the endometrium and is located in the ovary
DOID:6212
ovarian endometrioid adenofibroma class of disease ovarian benign neoplasm Human disease
DOID:5480
ovarian endometrioid cystadenofibroma class of disease ovarian endometrioid adenofibroma cystadenofibroma Human disease
DOID:7411
ovarian endometrioid cystadenoma class of disease ovarian cystadenoma
Human disease
DOID:7191
ovarian endometrioid malignant adenofibroma class of disease ovarian carcinosarcoma malignant adenofibroma Human disease
DOID:6445
ovarian endometrioid stromal sarcoma class of disease ovary sarcoma Human disease
DOID:5169
ovarian fetiform teratoma class of disease mature teratoma of the ovary Human disease
DOID:6314
ovarian germ cell monodermal and highly specialized teratoma class of disease monodermal teratoma Human disease
DOID:2641
ovarian germ cell neoplasm
class of disease ovarian neoplasm germ cell tumor germ cell and embryonal neoplasms ovarian cancer
benign or malignant ovarian tumor that originates in the germ (egg) cells of the ovary
DOID:2156
Germ cell neoplasms
ovarian germ cell teratoma class of disease ovarian germ cell neoplasm teratoma gonadal teratoma female reproductive organ cancer
Human disease
DOID:5567
Ovarian teratomas
ovarian gonadoblastoma class of disease ovarian benign neoplasm gonadoblastoma
Human disease
DOID:3578
ovarian large-cell neuroendocrine carcinoma class of disease ovarian carcinoma familiar ovarian carcinoma inherited neuroendocrine tumor large cell neuroendocrine carcinoma Human disease
DOID:4555
ovarian lymphoma class of disease ovarian cancer lymphoma
Human disease
DOID:2150
ovarian malignant mesothelioma class of disease ovarian cancer
Human disease
DOID:2143
ovarian melanoma class of disease ovarian cancer
ovarian cancer that has material basis in melanoctyes
DOID:0050928
ovarian mesodermal adenosarcoma class of disease ovarian carcinosarcoma adenosarcoma adenosarcoma and malignant ovarian endometroid tumorthat is located in the ovary
DOID:4115
ovarian mixed germ cell neoplasm class of disease ovarian primitive germ cell tumor mixed germ cell cancer Human disease
DOID:5936
ovarian mucinous adenocarcinoma class of disease ovary adenocarcinoma malignant ovarian mucinous tumor mucinous adenocarcinoma human disease
DOID:3606
ovarian mucinous adenofibroma class of disease ovarian benign neoplasm human disease
DOID:6469
ovarian mucinous cystadenocarcinoma class of disease ovarian cystadenocarcinoma mucinous cystadenocarcinoma ovarian mucinous adenocarcinoma Human disease
DOID:3604
ovarian mucinous cystadenofibroma class of disease ovarian mucinous adenofibroma mucinous cystadenofibroma Human disease
DOID:7013
ovarian mucinous malignant adenofibroma class of disease malignant ovarian mucinous tumor malignant adenofibroma ovarian mucinous neoplasm
Human disease
DOID:6278
ovarian mucinous neoplasm
class of disease surface epithelial-stromal tumor mucinous tumor Human disease
DOID:6067
Ovarian mucinous tumors
ovarian papillary cystadenoma class of disease ovarian papillary neoplasm papillary adenoma ovarian cystadenoma
Human disease
DOID:6405
ovarian papillary neoplasm class of disease surface epithelial-stromal tumor
Human disease
DOID:6214
ovarian primitive germ cell tumor class of disease malignant ovarian germ cell neoplasm Human disease
DOID:5351
ovarian serous adenofibroma class of disease ovarian benign neoplasm serous adenofibroma Human disease
DOID:5474
ovarian serous carcinoma class of disease ovarian carcinoma serous carcinoma ovarian serous tumor
ovarian carcinoma that has material basis in the lining of the ovary and produces a serum-like fluid
DOID:0050933
Ovarian serous carcinoma
ovarian serous cystadenofibroma class of disease ovarian serous adenofibroma cystadenofibroma Human disease
DOID:7320
ovarian serous cystadenoma
class of disease serous cystadenoma ovarian benign neoplasm ovarian cystadenocarcinoma serous cystadenocarcinoma ovarian cystadenoma ovarian serous tumor
ovary serous adenoma that has material basis in glandular epithelium, in which cystic accumulations of retained secretions are formed
DOID:5746 DOID:3914
C04.557.470.035.320.240 C04.557.470.590.485.240
Ovarian serous cystadenoma
ovarian sex cord-stromal tumor class of disease sex cord-gonadal stromal tumor
A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.
DOID:0080369
ovarian small cell carcinoma class of disease ovarian carcinoma small cell carcinoma
Human disease
DOID:6179
ovarian solid teratoma class of disease mature teratoma of the ovary Human disease
DOID:6315
ovarian squamous cell carcinoma
class of disease ovarian squamous cell neoplasm squamous cell carcinoma ovarian cancer
Human disease
DOID:5531
ovarian squamous cell neoplasm class of disease surface epithelial-stromal tumor
Human disease
DOID:5532
ovarian surface papilloma class of disease ovarian papillary neoplasm Human disease
DOID:6407
ovary adenocarcinoma class of disease ovarian carcinoma adenocarcinoma
ovarian carcinoma that derives from epithelial cells of glandular origin
DOID:3713
Adenocarcinomas of the ovary
ovary leiomyosarcoma class of disease leiomyosarcoma
Human disease
DOID:5263
ovary mixed epithelial carcinoma class of disease ovarian carcinoma Human disease
DOID:6898 DOID:6899
ovary neuroendocrine neoplasm class of disease ovarian cancer neuroendocrine tumor
Human disease
DOID:3002
ovary papillary carcinoma class of disease ovarian papillary neoplasm ovarian carcinoma Human disease
DOID:6408
ovary rhabdomyosarcoma class of disease ovary sarcoma rhabdomyosarcoma
Human disease
DOID:4059
ovary sarcoma class of disease ovarian cancer sarcoma
human disease
DOID:2146
ovary serous adenocarcinoma class of disease ovary adenocarcinoma ovarian serous carcinoma ovary adenocarcinoma that derives from the lining of a cavity that produces a serum-like fluid (a serous cavity)
DOID:5744
Serous adenocarcinoma of the ovary
overhydrated hereditary stomatocytosis class of disease macrocytic anemia autosomal dominant disease hereditary stomatocytosis
human disease
DOID:0111562
overnutrition
class of disease nutrition disorder malnutrition
form of malnutrition in which the intake of nutrients is oversupplied
DOID:654
C18.654.726
ovine and caprine brucellosis class of disease brucellosis
A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.
DOID:14456
oxirane allergy class of disease drug allergy
drug allergy that has allergic trigger oxirane
DOID:0040082
oxyphilic adenoma
class of disease endocrine organ benign neoplasm oncocytic neoplasm benign epithelial neoplasm disease
Human disease
DOID:5389
C04.557.470.035.140
Oncocytoma
oxyphilic endometrial endometrioid adenocarcinoma class of disease endometrial adenocarcinoma Human disease
DOID:6865
pain agnosia
class of disease agnosia absence of pain sensation agnosia that is a loss of the ability to perceive and process pain
DOID:0060145
pain disorder
class of disease somatoform disorder disease pain
somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
DOID:0060164
palindromic rheumatism
class of disease syndrome arthritis
human disease
DOID:1166
palladium allergic contact dermatitis class of disease allergic contact dermatitis metal allergy
allergic contact dermatitis that has allergic trigger palladium
DOID:0040055
palmoplantar keratosis
class of disease keratosis foot diseases epidermal disease disease
keratosis characterized by abnormal thickening of the palms and the soles
DOID:3390
C16.320.850.475 C17.800.428.435 C17.800.827.475
Palmoplantar keratodermas
pancreas disease
class of disease endocrine system disease
endocrine system disease that is located in the pancreas
DOID:26
C06.689
Diseases and disorders of pancreas
pancreas lymphoma class of disease pancreatic cancer lymphoma
human disease
DOID:1792
pancreas sarcoma class of disease pancreatic cancer sarcoma
pancreatic cancer that is located in the pancreas and that arises from transformed cells of mesenchymal origin
DOID:1796
pancreatic ACTH hormone producing tumor class of disease islet cell tumor Human disease
DOID:7697
pancreatic acinar cell adenocarcinoma class of disease pancreatic adenocarcinoma Acinar cell carcinoma of the pancreas acinar adenocarcinoma
pancreatic adenocarcinoma that has material basis in cells with morphological resemblance to acinar cells and is associated with increased serum lipase
DOID:5742
pancreatic adenocarcinoma class of disease pancreatic carcinoma adenocarcinoma
pancreatic carcinoma that derives from epithelial cells of glandular origin
DOID:4074
Adenocarcinomas of the pancreas
pancreatic cancer
class of disease endocrine gland cancer pancreas disease pancreatic neoplasm gastrointestinal system cancer disease
endocrine gland cancer located in the pancreas
DOID:1793
Pancreatic cancer
pancreatic carcinoma class of disease pancreatic cancer carcinoma gastrointestinal carcinoma pancreas cancer that derives from epithelial cells located in the pancreas
DOID:4905
pancreatic cholera class of disease endocrine pancreas disease Human disease
DOID:6977
pancreatic colloid cystadenocarcinoma class of disease pancreatic cystadenocarcinoma mucinous cystadenocarcinoma
Human disease
DOID:7234
pancreatic cystadenocarcinoma class of disease pancreatic adenocarcinoma cystadenocarcinoma
Human disease
DOID:4073
pancreatic cystadenoma class of disease benign neoplasm of exocrine pancreas endocrine organ benign neoplasm benign neoplasm of pancreas gastrointestinal system benign neoplasm pancreas disease
human disease
DOID:3918
pancreatic delta cell neoplasm class of disease islet cell tumor Human disease
DOID:4433
pancreatic ductal adenocarcinoma class of disease pancreatic adenocarcinoma pancreatic adenocarcinoma that derives from pancreatic duct cells
DOID:3498
pancreatic ductal carcinoma class of disease pancreatic cancer ductal carcinoma pancreatic carcinoma most common cancer of the pancreas
DOID:3587
C04.557.470.200.025.232.750 C04.557.470.615.132.750 C04.588.274.761.750 C04.588.322.475.750 C06.301.761.750 C06.689.667.625 C19.344.421.750
pancreatic foamy gland adenocarcinoma class of disease pancreatic adenocarcinoma Human disease
DOID:7577
pancreatic gastrinoma class of disease islet cell tumor functional pancreatic neuroendocrine tumor Human disease
DOID:5580
pancreatic intraductal papillary-colloid carcinoma class of disease pancreatic adenocarcinoma pancreatic intraductal papillary-mucinous neoplasm Human disease
DOID:7574
pancreatic intraductal papillary-mucinous adenoma class of disease pancreatic intraductal papillary-mucinous neoplasm adenoma of pancreas gastrointestinal system benign neoplasm adenoma
Human disease
DOID:7851
pancreatic intraductal papillary-mucinous neoplasm class of disease cancer of exocrine pancreas Human disease
DOID:7575
pancreatic invasive intraductal papillary-mucinous carcinoma class of disease pancreatic intraductal papillary-colloid carcinoma Human disease
DOID:8150
pancreatic invasive mucinous cystadenocarcinoma class of disease pancreatic colloid cystadenocarcinoma Human disease
DOID:7236
pancreatic mucinous cystadenoma
class of disease mucinous cystadenoma pancreatic cystadenoma human disease
DOID:7235
pancreatic mucinous ductal ectasia class of disease pancreas disease
Human disease
DOID:13313
pancreatic non-functioning delta cell tumor class of disease pancreatic delta cell neoplasm non-functioning pancreatic endocrine tumor Human disease
DOID:7840
pancreatic non-invasive intraductal papillary-mucinous carcinoma class of disease pancreatic intraductal papillary-colloid carcinoma pancreatic intraductal papillary-mucinous neoplasm Human disease
DOID:7685
pancreatic non-invasive mucinous cystadenocarcinoma class of disease pancreatic colloid cystadenocarcinoma human disease
DOID:7237
pancreatic serous cystadenocarcinoma class of disease pancreatic cystadenocarcinoma serous cystadenocarcinoma pancreatic serous cystic neoplasm Human disease
DOID:5751
pancreatic serous cystadenoma
class of disease serous cystadenoma pancreatic cystadenoma disease
human disease
DOID:3917
Serous cystadenoma pancreas
pancreatic serous cystic neoplasm class of disease pancreatic exocrine neoplasm Serous tumour cystic lesions of the pancreas cancer of exocrine pancreas Human disease
DOID:3919
Serous cystic neoplasms of the pancreas
pancreatic signet ring cell adenocarcinoma class of disease pancreatic ductal adenocarcinoma signet ring cell adenocarcinoma
Human disease
DOID:3497
pancreatic solid pseudopapillary carcinoma class of disease pancreatic carcinoma pancreatic carcinoma that is characterized by its papillary architecture
DOID:6827
pancreatic somatostatinoma class of disease islet cell tumor pancreatic delta cell neoplasm somatostatinoma
Human disease
DOID:4432
pancreatic squamous cell carcinoma class of disease pancreatic cancer squamous cell carcinoma
squamous cell carcinoma located in the pancreas
DOID:0080323
pancreatic steatorrhea class of disease pancreas disease steatorrhea
Human disease
DOID:10610
pancreatic vasoactive intestinal peptide producing tumor class of disease islet cell tumor Human disease
DOID:5741
pancreatoblastoma
class of disease pancreatic carcinoma rare epithelial tumor of pancreas disease
Human disease
DOID:6823
pancytopenia
class of disease anemia cytopenia disease
medical condition in which there is a reduction in the number of red and white blood cells, as well as platelets
DOID:12450
C15.378.243.875
panhypopituitarism, X-linked class of disease panhypopituitarism X-linked disease human disease
DOID:0111779
panic disorder
class of disease anxiety disorder disease
anxiety disorder characterized by reoccurring unexpected panic attacks
DOID:594
F03.080.700
Panic disorder
panniculitis
class of disease fibromyalgia connective tissue disease skin disease disease
Inflammation of the subcutaneous adipose tissue
DOID:1526
C17.300.710 C17.800.566
Panniculitis
panuveitis
class of disease uveitis
Human disease
DOID:12030
C11.941.879.780
papillary adenocarcinoma
class of disease adenocarcinoma
adenocarcinoma that derives from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue
DOID:3112
C04.557.470.200.025.085
papillary adenofibroma class of disease adenofibroma biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma
DOID:5479
papillary adenoma class of disease glandular cell epithelial neoplasm adenoma
Human disease
DOID:3172
papillary carcinoma class of disease carcinoma
carcinoma derived from epithelial cells with finger-like projections
DOID:3113
C04.557.470.200.360 C04.557.470.700.360
papillary conjunctivitis class of disease conjunctivitis
Human disease
DOID:2458
papillary craniopharyngioma class of disease craniopharyngioma
Human disease
DOID:3847
papillary cystadenocarcinoma class of disease cystadenocarcinoma papillary cystic tumor cystadenocarcinoma that derives from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections
DOID:3110
C04.557.470.200.025.480.230 C04.557.470.590.480.230
papillary eccrine adenoma
class of disease eccrine sweat gland neoplasm papillary adenoma Human disease
DOID:5446
papillary ependymoma class of disease benign ependymoma human disease
DOID:5505
papillary extrahepatic bile duct adenocarcinoma class of disease extrahepatic bile duct adenocarcinoma Human disease
DOID:6931
papillary follicular thyroid adenocarcinoma class of disease papillary thyroid cancer
Human disease
DOID:3968
C04.557.470.200.025.060.225 C04.557.470.200.025.085.225
papillary hidradenoma
class of disease hidradenoma
Human disease
DOID:5439
Papillary hidradenoma
papillary meningioma of the cerebellum class of disease cerebellum cancer rhabdoid meningioma papillary meningioma brain meningioma Human disease
DOID:5057
papillary pattern testicular yolk sac tumor class of disease testicular yolk sac tumor Human disease
DOID:8193
papillary renal cell carcinomas
class of disease renal cell carcinoma
renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors
DOID:4465
papillary serous adenocarcinoma class of disease papillary adenocarcinoma
papillary adenocarcinoma that derives from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies
DOID:2632
papillary squamous carcinoma class of disease squamous cell carcinoma papillary carcinoma Human disease
DOID:4385
papillary thymic adenocarcinoma class of disease thymus adenocarcinoma Human disease
DOID:5595
papillary thyroid cancer
class of disease thyroid carcinoma papillary carcinoma differentiated thyroid carcinoma thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer
DOID:3969
C04.557.470.200.025.085.612 C04.588.322.894.400 C04.588.443.915.400 C19.344.894.400 C19.874.788.400
Thyroid papillary carcinoma
papillary transitional carcinoma class of disease transitional cell carcinoma
transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium
DOID:4012
Urothelial papillary carcinoma
papillary urothelial neoplasm of low malignant potential
class of disease bladder papillary transitional cell neoplasm urinary tract non-invasive transitional cell neoplasm papillary urothelial lesion human disease
DOID:6239
papilledema
class of disease optic nerve disease disease
Human disease
DOID:146
C10.292.700.900 C11.640.710
Papilledema
papilloma
class of disease benign neoplasms by histologic type papillary tumor disease
cell type benign neoplasm that is composed of epithelial tissue on papillae of vascularized connective tissue
DOID:2615
C04.557.470.700.600
Papillomas
parachordoma class of disease mesenchymal cell neoplasm Human disease
DOID:2647
paralytic ileus class of disease bowel obstruction ileus
Human disease
DOID:8442
Paralytic ileus
paralytic lagophthalmos class of disease lagophthalmos
Human disease
DOID:12958
paralytic poliomyelitis class of disease poliomyelitis central nervous system disease
Human disease
DOID:0050515
paralytic squint class of disease strabismus cranial nerve palsy Human disease
DOID:10863
parameningeal embryonal rhabdomyosarcoma class of disease embryonal rhabdomyosarcoma
embryonal rhabdomyosarcoma located in the parameningeal region
DOID:0060338
parametritis
class of disease pelvic inflammatory diseases inflammatory disease uterine disease Human disease
DOID:1260
C13.351.500.056.750.750
parametrium malignant neoplasm class of disease uterine adnexa cancer broad ligament malignant neoplasm Human disease
DOID:11746
paramyotonia congenita of Von Eulenburg class of disease neuromuscular disease autosomal dominant disease paramyotonia congenita
human disease
DOID:0111538
paranasal sinus disease class of disease nose disease respiratory disease
DOID:1352
C08.460.692 C09.603.692
paranasal sinus lymphoma class of disease paranasal sinus cancer lymphoma
human disease
DOID:1355
paranasal sinus neoplasm class of disease respiratory tract neoplasm paranasal sinus disease respiratory system benign neoplasm human disease
DOID:1350
C04.588.443.665.650.693 C08.460.669.693 C08.460.692.503 C08.785.600.693 C09.603.669.693 C09.603.692.503 C09.647.685.693
Neoplasms of paranasal sinuses
paranasal sinus sarcoma class of disease paranasal sinus cancer sarcoma
sarcoma and malignant tumor of nasal sinuses that is located in the paranasal sinus
DOID:1362
paraneoplastic pemphigus class of disease pemphigus
human disease
DOID:0080852
paraneoplastic polyneuropathy class of disease inflammatory and toxic neuropathy peripheral neuropathy paraneoplastic neurologic syndrome
Human disease
DOID:8681
C04.588.614.550.700 C04.730.856.700 C10.574.781.850 C10.668.829.800.662
paranoid personality disorder
class of disease personality disorder disease
mental disorder characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others
DOID:10938
F03.675.600
Paranoid personality disorder
parapharyngeal meningioma class of disease meningioma
Human disease
DOID:8216
paraphilia
class of disease psychosexual disorder sexual and gender disorder disease
experience of intense sexual arousal to atypical objects, situations, or individuals
DOID:0060044
F03.657
Paraphilias
paraphimosis
class of disease phimosis disease
medical condition in which the foreskin of a penis becomes trapped behind the glans penis
DOID:5334
C12.294.494.684.587
Paraphimosis
paraplegia
class of disease symptom or sign
central nervous system disease paralysis disease
impairment in motor or sensory function of the lower extremities
DOID:607
C10.597.622.669 C23.888.592.636.637
Paraplegia
parapsoriasis
class of disease psoriasis disease
Human disease
DOID:9088
C17.800.859.575
parasagittal meningioma class of disease cerebral convexity meningioma Human disease
DOID:6869
parasitic Ichthyosporea infectious disease class of disease parasitic infectious diseases
parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals
DOID:0050291
C03.600
parasitic conjunctivitis class of disease chronic conjunctivitis parasitic eye infection Human disease
DOID:13341
parasitic eyelid infestation class of disease blepharitis parasitic eye infection Human disease
DOID:13823
parasitic protozoa infectious disease
class of disease parasitic infectious diseases disease
parasitic disease caused by a protozoan
DOID:2789
C01.610.752
paratesticular lipoma class of disease reproductive organ benign neoplasm lipoma
Human disease
DOID:10207
parathyroid adenoma
class of disease parathyroid neoplasm benign parathyroid gland neoplasm benign neoplasms by histologic type adenoma disease
Human disease
DOID:7608
Parathyroid adenoma
parathyroid gland disease
class of disease endocrine system disease
endocrine disease
DOID:11201
C19.642
parathyroid oncocytic adenoma class of disease parathyroid adenoma oxyphilic adenoma
Human disease
DOID:7611
parathyroid transitional clear cell adenoma class of disease parathyroid adenoma
Human disease
DOID:7609
paraurethral gland cancer class of disease female reproductive organ cancer paraurethral gland neoplasm Human disease
DOID:14059
paraurethral gland neoplasm class of disease urethral benign neoplasm Human disease
DOID:2139
parenchymatous neurosyphilis class of disease tertiary neurosyphilis Human disease
DOID:0050490
parietal lobe ependymoma class of disease parietal lobe malignant neoplasm ependymoma
parietal lobe neoplasm that has material basis in cells lining the ventricles of the brain
DOID:0050903
paronychia
class of disease nail disease disease
bacterial or fungal nail infection of the hand or foot
DOID:13117
C01.539.800.460 C17.800.529.639 C17.800.838.486
Paronychia (disease)
parotid disease class of disease salivary gland disease
Human disease
DOID:10302
C07.465.815.470
Diseases and disorders of parotid glands
parotitis
class of disease parotid disease inflammatory disease sialadenitis disease
parotid disease characterized by the inflammation of one or both parotid glands
DOID:10301
C07.465.815.470.800 C07.465.815.793.500
parovarian cyst class of disease female reproductive system disease embryonic cyst of fallopian tube Human disease
DOID:4333
C04.182.668 C23.300.306.500
paroxysmal nonkinesigenic dyskinesia 2
class of disease Paroxysmal dyskinesia dystonia genetic disease
human disease
DOID:0090047
pars planitis class of disease intermediate uveitis chorioretinitis ciliary body disease rare genetic eye disease disease
Human disease
DOID:12731
C11.941.160.478.700 C11.941.879.780.900.300.659 C11.941.879.900.500
parthenolide allergic contact dermatitis class of disease allergic contact dermatitis
allergic contact dermatitis that has allergic trigger parthenolide
DOID:0040072
partial androgen insensitivity syndrome
class of disease X-linked recessive disease androgen insensitivity syndrome
medical condition
DOID:0080776
partial arterial retinal occlusion class of disease retinal artery occlusion Human disease
DOID:14522
partial circumpapillary choroid dystrophy class of disease hereditary choroidal atrophy human disease
DOID:9811
partial lipodystrophy class of disease lipodystrophy
lipodystrophy that is characterized by partial loss of adipose tissue
DOID:0080299
partial motor epilepsy class of disease focal epilepsy
Human disease
DOID:3327
C10.228.140.490.360.272
partial optic atrophy class of disease optic atrophy human disease
DOID:10631
partial pancreatic agenesis class of disease pancreas disease agenesis pancreatic agenesis pancreas disease that is characterized by the failure of the pancreas to develop prior to birth
DOID:0050877
partial retinal vein occlusion class of disease retinal vein occlusion Human disease
DOID:1726
partial sensory epilepsy class of disease focal epilepsy
Human disease
DOID:3330
C10.228.140.490.360.275
partial third-nerve palsy class of disease paralytic squint oculomotor nerve paralysis
Human disease
DOID:10864
patellar tendinitis
class of disease tendinitis knee disorder knee extensor tendonitis Human disease
DOID:10471
Patellar tendinitis
patent blue V allergy class of disease drug allergy
drug allergy that has allergic trigger patent blue V
DOID:0040080
paternal uniparental disomy of chromosome 14 class of disease uniparental disomy of paternal origin uniparental disomy 14 syndrome
human disease
DOID:0111712
pathologic nystagmus class of disease nystagmus ocular motility disease abnormal eye movements Human disease
DOID:9650
C10.292.562.675 C11.590.400
patterned macular dystrophy 1 class of disease patterned macular dystrophy human disease
DOID:0060866
patulous eustachian tube
class of disease physiological condition
eustachian tube disease eustachian tube disorder
DOID:12358
peach allergy class of disease fruit allergy
fruit allergy triggered by Prunus persica plant fruit food product.
DOID:0060510
peanut allergy
class of disease tree nut allergy legume allergy vegetable allergy type of food allergy caused by peanuts
DOID:4378
C20.543.480.370.572.750
pediatric CNS choriocarcinoma class of disease malignant childhood germ cell neoplasm central nervous system choriocarcinoma rare childhood malignant neoplasm choriocarcinoma
Human disease
DOID:6639
pediatric CNS embryonal cell carcinoma class of disease central nervous system childhood germ cell tumor central nervous system embryonal carcinoma rare childhood malignant neoplasm malignant childhood germ cell neoplasm brain cancer Human disease
DOID:7231
pediatric angiosarcoma class of disease angiosarcoma rare childhood malignant neoplasm angiosarcoma that affects children
DOID:4505
pediatric cerebral ependymoblastoma class of disease ependymoblastoma Human disease
DOID:7841
pediatric ependymoma
class of disease ependymoma childhood cancer ependymal tumor childhood neoplasm human disease
DOID:5509
pediatric epithelioid sarcoma class of disease epithelioid sarcoma rare childhood malignant neoplasm Human disease
DOID:7095
pediatric fibrosarcoma class of disease fibrosarcoma rare childhood malignant neoplasm Human disease
DOID:3520
pediatric germ cell tumor class of disease germ cell tumor childhood neoplasm Human disease
DOID:6053
pediatric hepatocellular carcinoma class of disease hepatocellular carcinoma childhood cancer of liver Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age
DOID:0070322
pediatric infratentorial ependymoblastoma class of disease childhood infratentorial neoplasm ependymoblastoma infratentorial cancer childhood central nervous system primitive neuroectodermal neoplasm rare childhood malignant neoplasm Human disease
DOID:7522
pediatric infratentorial ependymoma class of disease infratentorial cancer pediatric ependymoma brain ependymoma childhood infratentorial neoplasm childhood cancer
Human disease
DOID:7501
pediatric leptomeningeal melanoma class of disease meningeal melanoma Human disease
DOID:6089
pediatric liposarcoma class of disease liposarcoma rare childhood malignant neoplasm Human disease
DOID:5695
pediatric low-grade glioma class of disease low grade glioma human disease
DOID:0080830
pediatric lymphoma class of disease lymphoma rare childhood malignant neoplasm Human disease
DOID:5823
pediatric meningioma class of disease meningioma pediatric central nervous system tumor Human disease
DOID:4593
pediatric mesenchymal chondrosarcoma class of disease mesenchymal chondrosarcoma childhood cancer
Human disease
DOID:4546
pediatric myxoid chondrosarcoma class of disease myxoid chondrosarcoma childhood cancer
Human disease
DOID:6494
pediatric osteosarcoma class of disease osteosarcoma rare childhood malignant neoplasm Human disease
DOID:3361
pediatric ovarian dysgerminoma class of disease pediatric ovarian germ cell tumor rare childhood malignant neoplasm malignant childhood germ cell neoplasm dysgerminoma of ovary dysgerminoma of ovary that occurs in children
DOID:7340
pediatric ovarian germ cell tumor class of disease ovarian germ cell neoplasm pediatric germ cell tumor Human disease
DOID:6084
pediatric supratentorial ependymoma class of disease supratentorial cancer pediatric ependymoma brain ependymoma Human disease
DOID:7502
pediatric testicular germ cell tumor class of disease testicular germ cell tumor pediatric germ cell tumor Human disease
DOID:6082
peliosis hepatis
class of disease hepatic vascular disease Human disease
DOID:914
C06.552.802
Peliosis hepatis
pellagra
class of disease nutritional deficiency disease other acquired skin disease skin disease disease
Human disease
DOID:8457
C18.654.521.500.133.699.529
Pellagra
pelvic inflammatory diseases
class of disease female reproductive system disease adnexal disease infectious disease disease
infection of uterus, fallopian tubes, ovaries or the inner surface of pelvis
DOID:1003
C01.635.500 C12.050.351.500.056.750 C12.100.250.056.750
Pelvic inflammatory disease
pelvic lipomatosis
class of disease lipomatosis
Human disease
DOID:3927
pelvic muscle wasting class of disease pelvic organ prolapse pelvic floor dysfunction
Human disease
DOID:11629
pelvic organ prolapse
class of disease female reproductive system disease prolapse
pelvic organs protruding from the opening of the vagina
DOID:1284
C23.300.842.624
Female genital prolapse
pelvic varices class of disease varicose veins
Human disease
DOID:9742
pemphigoid class of disease autoimmune skin disease bullous skin disease human disease
DOID:0080841
penicillin drug reaction
class of disease adverse drug reaction beta-lactam allergy Side effects of penicillin
beta-lactam allergy triggered by penicillin
DOID:0060520
penicilliosis
class of disease opportunistic mycosis disease
Human disease
DOID:0050288
penile cancer
class of disease penile neoplasm male reproductive organ cancer penile disease disease
cancer of the penis
DOID:11615
Penile cancer
penile disease class of disease male reproductive system disease
Human disease
DOID:1529
C12.294.494
penile neoplasm class of disease male reproductive system neoplasm penile disease male reproductive organ benign neoplasm human disease
DOID:11624
C04.588.945.440.715 C12.294.260.500 C12.294.494.591 C12.758.409.500
Penile neoplasms
penile urethral cancer class of disease male urethral cancer Human disease
DOID:8223
penis Paget's disease class of disease penis carcinoma extramammary Paget's disease adenocarcinoma of penis genetic urogenital tumor Human disease
DOID:3448
Penile Paget's disease
penis basal cell carcinoma class of disease penis carcinoma basal-cell carcinoma rare skin disease human disease
DOID:4277
penis basaloid carcinoma class of disease penis squamous cell carcinoma basaloid squamous cell carcinoma Human disease
DOID:7047
penis carcinoma class of disease penile cancer carcinoma
penile cancer that is located in the skin or tissues of the penis
DOID:3449
penis carcinoma in situ class of disease in situ carcinoma penile disease penis squamous cell carcinoma carcinoma in situ of male genital organs Human disease
DOID:8872
penis mixed squamous cell carcinoma class of disease penis squamous cell carcinoma Human disease
DOID:8009
penis non-invasive verrucous carcinoma class of disease penis verrucous carcinoma penis carcinoma in situ cervical verrucous carcinoma Human disease
DOID:5907
penis papillary carcinoma class of disease penis squamous cell carcinoma papillary squamous carcinoma Human disease
DOID:8013
penis sarcoma class of disease penile cancer sarcoma
sarcoma and malignant neoplasm of penis that is located in the penis
DOID:11838
penis squamous cell carcinoma class of disease penis carcinoma squamous cell carcinoma
penis carcinoma that has material basis in squamous cells
DOID:5518
Squamous-cell carcinoma of the penis
penis verrucous carcinoma class of disease penis squamous cell carcinoma verrucous carcinoma penis papillary carcinoma Human disease
DOID:5908
peptic esophagitis class of disease peptic ulcer disease esophagitis gastroesophageal reflux disease
human disease
DOID:13976
C06.405.117.620.420 C06.405.205.663.420 C06.405.469.275.800.523 C06.405.748.586.524
peptic ulcer disease
class of disease gastrointestinal system disease duodenal disease disease
ulcer of an area of the gastrointestinal tract
DOID:750
C06.405.469.275.800 C06.405.748.586
Peptic ulcers
perforated corneal ulcer class of disease corneal ulcer
Human disease
DOID:10445
perforated ulcer
class of disease peptic ulcer disease gastric perforation medical condition of the gastrointestinal tract wall
DOID:752
C06.405.469.275.800.698 C06.405.748.586.698
perforation of bile duct class of disease biliary tract disease Human disease
DOID:13409
periampullary adenocarcinoma class of disease ampulla of Vater adenocarcinoma Human disease
DOID:8110
periampullary adenoma class of disease ampulla of Vater neoplasm adenoma
Human disease
DOID:0050849
perianal gland tumor
class of disease cancer in dogs anus neoplasm dog disease
DOID:4550
C04.588.083 C04.588.274.476.411.307.790.040.040 C06.301.371.411.307.790.040.040 C06.405.249.411.307.790.040.040 C06.405.469.491.307.790.040.040 C06.405.469.860.101.163.083 C06.405.469.860.180.500.040.040 C22.073
perianal hematoma
class of disease hemorrhoid
Human disease
DOID:9745
Perianal hematoma
perianal skin Paget's disease class of disease anal margin carcinoma extramammary Paget's disease anal Paget's disease Human disease
DOID:7708
periapical abscess
class of disease periapical periodontitis dental abscess
localized collection of pus associated with a tooth
DOID:2562
C01.539.830.025.650 C07.320.830.700.700 C07.465.714.306.700.700 C07.465.714.533.487.700
periapical periodontitis
class of disease inflammation periodontitis dental pulp disease periapical disease tooth pathology
Human disease
DOID:823
C07.320.830.700 C07.465.714.306.700 C07.465.714.533.487
pericardial effusion
class of disease symptom or sign
pericardium disease cardiovascular system symptom disease
pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity
DOID:118
C14.280.695
Pericardial effusion
pericardial mesothelioma class of disease pericardium cancer mesothelioma
Human disease
DOID:6201
pericarditis
class of disease pericardium disease inflammation inflammatory disease heart disease disease
pericardium disease that is characterized by an inflammation of the pericardium and has symptom chest pain
DOID:1787
C14.280.720
Pericarditis
pericardium cancer class of disease heart cancer neoplasm of pericardium pericardium disease Human disease
DOID:116
pericardium leiomyoma class of disease leiomyoma benign neoplasm of pericardium pericardium disease cardiovascular organ benign neoplasm Human disease
DOID:5137
pericholangitis class of disease ascending cholangitis primary sclerosing cholangitis
Human disease
DOID:14272
perichondritis of auricle
class of disease otitis externa acquired deformities of the ear Human disease
DOID:222
Perichondritis
pericoronitis
class of disease gingival disease
human disease
DOID:3671
C07.465.714.258.771
Pericoronitis
periductal breast myoepitheliosis class of disease breast myoepitheliosis Human disease
DOID:7520
perinatal intestinal perforation class of disease intestinal perforation perinatal digestive system disorder Human disease
DOID:2073
perinatal jaundice due to hepatocellular damage class of disease neonatal jaundice Neonatal hepatitis
Human disease
DOID:11452
perineocele
class of disease pelvic organ prolapse
human disease
DOID:12637
perinephritis
class of disease kidney disease inflammatory disease connective tissue disease
human disease
DOID:2982
C12.777.419.685 C13.351.968.419.685
perineural angioma class of disease deep angioma hemangioma central nervous system organ benign neoplasm Human disease
DOID:8331
perineurioma class of disease nerve sheath neoplasms
Human disease
DOID:4697
Perineuroma
periocular meningioma class of disease meningioma intraorbital meningioma Human disease
DOID:8030
periodic limb movement disorder
class of disease symptom or sign
sleep disorder disease
sleep disorder that involves involuntary limb movement during sleep
DOID:9207
C10.886.425.800.600 C10.886.659.618
periodontal disease class of disease tooth pathology jaw disease disease
human disease
DOID:3388
C07.465.714
periodontitis
class of disease periodontal disease disease
gum disease
DOID:824
C07.465.714.533
Periodontitis
periodontosis
class of disease periodontal disease tooth pathology
human disease
DOID:9893
periosteal chondrosarcoma class of disease chondrosarcoma
Human disease
DOID:5859
periosteal osteogenic sarcoma class of disease peripheral osteosarcoma Human disease
DOID:6489
periostitis
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