Reactome Disease Catalogue

Overview

Catalogue of diseases in the Reactome pathway database, cross-referenced with dismech entries. Reactome curates disease-associated pathway variants, providing mechanistic context for how mutations perturb normal biological processes.

Total Reactome diseases: 770 (770 entries, 735 DOID + 35 SYMP)
Already in dismech: 110 (strict name match)
Not yet in dismech: 660

Source: https://reactome.org/ContentService/data/diseases

Existing Overlap with dismech

Reactome Disease	DOID	dismech Entry
achondroplasia	DOID:4480	Achondroplasia
Addison's disease	DOID:13774	Addisons Disease
age related macular degeneration	DOID:10871	Age Related Macular Degeneration
alopecia areata	DOID:986	Alopecia Areata
Alzheimer's disease	DOID:10652	Alzheimers_Disease
ankylosing spondylitis	DOID:7147	Ankylosing Spondylitis
argininosuccinic aciduria	DOID:14755	Argininosuccinic Aciduria
asthma	DOID:2841	Asthma
atopic dermatitis	DOID:3310	Atopic Dermatitis
atrial fibrillation	DOID:0060224	Atrial Fibrillation
autoimmune hemolytic anemia	DOID:718	Autoimmune Hemolytic Anemia
basal cell carcinoma	DOID:2513	Basal Cell Carcinoma
Behcet's disease	DOID:13241	Behcets Disease
beta-ketothiolase deficiency	DOID:14723	Beta-Ketothiolase Deficiency
bipolar disorder	DOID:3312	Bipolar Disorder
botulism	DOID:11976	Botulism
breast fibroadenoma	DOID:1618	Breast Fibroadenoma
Burkitt lymphoma	DOID:8584	Burkitt Lymphoma
cardiofaciocutaneous syndrome	DOID:0060233	Cardiofaciocutaneous Syndrome
celiac disease	DOID:10608	Celiac Disease
cervical cancer	DOID:4362	Cervical Cancer
chronic kidney disease	DOID:784	Chronic Kidney Disease
chronic lymphocytic leukemia	DOID:1040	Chronic Lymphocytic Leukemia
chronic myeloid leukemia	DOID:8552	Chronic Myeloid Leukemia
chronic obstructive pulmonary disease	DOID:3083	Chronic Obstructive Pulmonary Disease
colon adenocarcinoma	DOID:234	Colon Adenocarcinoma
coronary artery disease	DOID:3393	Coronary Artery Disease
Costello syndrome	DOID:0050469	Costello Syndrome
Crouzon syndrome	DOID:2339	Crouzon Syndrome
cystic fibrosis	DOID:1485	Cystic Fibrosis
dermatomyositis	DOID:10223	Dermatomyositis
diffuse large B-cell lymphoma	DOID:0050745	Diffuse Large B Cell Lymphoma
Duchenne muscular dystrophy	DOID:11723	Duchenne Muscular Dystrophy
Ehlers-Danlos syndrome	DOID:13359	Ehlers-Danlos Syndrome
endometriosis	DOID:289	Endometriosis
familial adenomatous polyposis	DOID:0050424	Familial Adenomatous Polyposis
familial Mediterranean fever	DOID:2987	Familial Mediterranean Fever
Fanconi anemia	DOID:13636	Fanconi Anemia
fibromyalgia	DOID:631	Fibromyalgia
galactosemia	DOID:9870	Galactosemia
gastric ulcer	DOID:10808	Gastric Ulcer
gastroesophageal reflux disease	DOID:8534	Gastroesophageal Reflux Disease
gastrointestinal stromal tumor	DOID:9253	Gastrointestinal Stromal Tumor
glaucoma	DOID:1686	Glaucoma
gout	DOID:13189	Gout
granulomatosis with polyangiitis	DOID:12132	Granulomatosis with Polyangiitis
hemochromatosis	DOID:2352	Hemochromatosis
hemophilia B	DOID:12259	Hemophilia B
hepatitis B	DOID:2043	Hepatitis B
hepatitis C	DOID:1883	Hepatitis C
hepatocellular carcinoma	DOID:684	Hepatocellular Carcinoma
hereditary spherocytosis	DOID:12971	Hereditary Spherocytosis
homocystinuria	DOID:9263	Homocystinuria
hypertrophic cardiomyopathy	DOID:11984	Hypertrophic Cardiomyopathy
hypochondroplasia	DOID:0080041	Hypochondroplasia
irritable bowel syndrome	DOID:9778	Irritable Bowel Syndrome
isovaleric acidemia	DOID:14753	Isovaleric Acidemia
leprosy	DOID:1024	Leprosy
Li-Fraumeni syndrome	DOID:3012	Li-Fraumeni Syndrome
lymphoma	DOID:0060058	Lymphoma
major depressive disorder	DOID:1470	Major Depressive Disorder
malaria	DOID:12365	Malaria
malignant mesothelioma	DOID:1790	Malignant Mesothelioma
mantle cell lymphoma	DOID:0050746	Mantle Cell Lymphoma
maple syrup urine disease	DOID:9269	Maple Syrup Urine Disease
Merkel cell carcinoma	DOID:3965	Merkel Cell Carcinoma
methylmalonic acidemia	DOID:14749	Methylmalonic Acidemia
migraine	DOID:6364	Migraine
mixed connective tissue disease	DOID:3492	Mixed Connective Tissue Disease
mucopolysaccharidosis	DOID:12798	Mucopolysaccharidosis
multiple sclerosis	DOID:2377	Multiple Sclerosis
myasthenia gravis	DOID:437	Myasthenia Gravis
N-acetylglutamate synthase deficiency	DOID:0112258	N-Acetylglutamate Synthase Deficiency
narcolepsy	DOID:8986	Narcolepsy
neuroblastoma	DOID:769	Neuroblastoma
neuromyelitis optica	DOID:8869	Neuromyelitis Optica
Noonan syndrome	DOID:3490	Noonan Syndrome
obesity	DOID:9970	Obesity
onchocerciasis	DOID:11678	Onchocerciasis
ornithine carbamoyltransferase deficiency	DOID:9271	Ornithine Carbamoyltransferase Deficiency
osteoarthritis	DOID:8398	Osteoarthritis
osteoporosis	DOID:11476	Osteoporosis
osteosarcoma	DOID:3347	Osteosarcoma
Parkinson's disease	DOID:14330	Parkinsons Disease
pemphigus vulgaris	DOID:0060851	Pemphigus Vulgaris
Pfeiffer syndrome	DOID:14705	Pfeiffer Syndrome
phenylketonuria	DOID:9281	Phenylketonuria
polycystic ovary syndrome	DOID:11612	Polycystic Ovary Syndrome
primary sclerosing cholangitis	DOID:0060643	Primary Sclerosing Cholangitis
psoriasis	DOID:8893	Psoriasis
psoriatic arthritis	DOID:9008	Psoriatic Arthritis
pulmonary hypertension	DOID:6432	Pulmonary hypertension
Raynaud disease	DOID:10300	Raynaud Disease
renal cell carcinoma	DOID:4450	Renal Cell Carcinoma
retinoblastoma	DOID:768	Retinoblastoma
Rett syndrome	DOID:1206	Rett Syndrome
rheumatoid arthritis	DOID:7148	Rheumatoid Arthritis
sarcoidosis	DOID:11335	Sarcoidosis
schizophrenia	DOID:5419	Schizophrenia
Sjogren's syndrome	DOID:12894	Sjogrens Syndrome
synovial sarcoma	DOID:5485	Synovial Sarcoma
systemic lupus erythematosus	DOID:9074	Systemic Lupus Erythematosus
tetanus	DOID:11338	Tetanus
tuberculosis	DOID:399	Tuberculosis
type 2 diabetes mellitus	DOID:9352	Type 2 Diabetes Mellitus
tyrosinemia type I	DOID:0050726	Tyrosinemia Type I
ulcerative colitis	DOID:8577	Ulcerative Colitis
urea cycle disorder	DOID:9267	Urea Cycle Disorder
urticaria	DOID:1555	Urticaria
X-linked hypophosphatemia	DOID:0050445	X-Linked Hypophosphatemia

STATUS

Cancer/Neoplasm (210)

[ ] acute lymphocytic leukemia (DOID:9952)
[ ] acute myeloid leukemia (DOID:9119)
[ ] adenomyoma (DOID:2609)
[ ] adrenal cortical adenoma (DOID:0050891)
[ ] adrenal gland cancer (DOID:3953)
[ ] adrenal gland pheochromocytoma (DOID:0050892)
[ ] adrenocortical carcinoma (DOID:3948)
[ ] aggressive NK-cell leukemia (DOID:1035)
[ ] anaplastic large cell lymphoma (DOID:0050744)
[ ] angioimmunoblastic T-cell lymphoma (DOID:0111147)
[ ] angiomyolipoma (DOID:3314)
[ ] angiosarcoma (DOID:0001816)
[ ] appendix adenocarcinoma (DOID:3608)
[ ] ascending colon cancer (DOID:218)
[ ] astrocytoma (DOID:3069)
[ ] basaloid lung carcinoma (DOID:7045)
[ ] benign breast phyllodes tumor (DOID:1631)
[ ] bile duct adenocarcinoma (DOID:4896)
[ ] bile duct carcinoma (DOID:4897)
[ ] biliary tract cancer (DOID:4607)
[ ] bladder adenocarcinoma (DOID:3711)
[ ] bladder carcinoma (DOID:4007)
[ ] bladder squamous cell carcinoma (DOID:3742)
[ ] brain ependymoma (DOID:7497)
[ ] brain glioma (DOID:0060108)
[ ] brain meningioma (DOID:0060106)
[ ] brain oligodendroglioma (DOID:3187)
[ ] brain stem glioma (DOID:4202)
[ ] breast cancer (DOID:1612)
[ ] breast carcinoma (DOID:3459)
[ ] breast ductal carcinoma (DOID:3007)
[ ] breast fibrocystic disease (DOID:10354)
[ ] breast lobular carcinoma (DOID:0050938)
[ ] bronchiolo-alveolar adenocarcinoma (DOID:4926)
[ ] cancer (DOID:162)
[ ] carcinoma (DOID:305)
[ ] cecum adenocarcinoma (DOID:3039)
[ ] cecum carcinoma (DOID:1519)
[ ] central nervous system cancer (DOID:3620)
[ ] cervical adenocarcinoma (DOID:3702)
[ ] cervical adenosquamous carcinoma (DOID:5636)
[ ] cervical squamous cell carcinoma (DOID:3744)
[ ] cervix small cell carcinoma (DOID:6740)
[ ] cholangiocarcinoma (DOID:4947)
[ ] chondrosarcoma (DOID:3371)
[ ] chordoma (DOID:3302)
[ ] chromophobe renal cell carcinoma (DOID:4471)
[ ] colon cancer (DOID:219)
[ ] colon carcinoma (DOID:1520)
[ ] colon neuroendocrine neoplasm (DOID:4118)
[ ] colorectal cancer (DOID:9256)
[ ] connective tissue cancer (DOID:201)
[ ] cutaneous T cell lymphoma (DOID:0060061)
[ ] descending colon cancer (DOID:12190)
[ ] duodenum adenocarcinoma (DOID:10816)
[ ] duodenum adenoma (DOID:0050927)
[ ] dysembryoplastic neuroepithelial tumor (DOID:2679)
[ ] eccrine sweat gland cancer (DOID:4921)
[ ] endometrial cancer (DOID:1380)
[ ] endometrial carcinoma (DOID:2871)
[ ] endometrioid ovary carcinoma (DOID:5828)
[ ] epidermal appendage tumor (DOID:2433)
[ ] epithelioid inflammatory myofibroblastic sarcoma (DOID:0080372)
[ ] esophageal carcinoma (DOID:1107)
[x] esophagus adenocarcinoma (DOID:4914)
[ ] esophagus squamous cell carcinoma (DOID:3748)
[ ] estrogen-receptor positive breast cancer (DOID:0060075)
[ ] fallopian tube serous adenocarcinoma (DOID:5598)
[ ] female reproductive endometrioid cancer (DOID:3001)
[ ] Ferguson-Smith tumor (DOID:5585)
[ ] fibrosarcoma (DOID:3355)
[ ] follicular lymphoma (DOID:0050873)
[ ] gallbladder adenocarcinoma (DOID:3500)
[ ] gallbladder carcinoma (DOID:4948)
[ ] gastric adenocarcinoma (DOID:3717)
[ ] gastric neuroendocrine neoplasm (DOID:4715)
[ ] gastroesophageal junction adenocarcinoma (DOID:4944)
[ ] germ cell cancer (DOID:2994)
[ ] glioblastoma (DOID:3068)
[ ] gliosarcoma (DOID:3071)
[ ] gum cancer (DOID:8602)
[ ] hairy cell leukemia (DOID:285)
[ ] head and neck carcinoma (DOID:1542)
[ ] head and neck squamous cell carcinoma (DOID:5520)
[ ] hemangioblastoma (DOID:5241)
[ ] hematologic cancer (DOID:2531)
[ ] hepatoblastoma (DOID:687)
[ ] hereditary breast ovarian cancer syndrome (DOID:5683)
[ ] histiocytic and dendritic cell cancer (DOID:5621)
[ ] Hodgkin's lymphoma (DOID:8567)
[ ] Human immunodeficiency virus infectious disease (DOID:526)
[ ] inflammatory myofibroblastic tumor (DOID:0050905)
[ ] invasive bladder transitional cell carcinoma (DOID:6477)
[ ] islet cell tumor (DOID:1799)
[ ] juvenile myelomonocytic leukemia (DOID:0050458)
[ ] kidney cancer (DOID:263)
[ ] large intestine adenocarcinoma (DOID:0050913)
[ ] large intestine cancer (DOID:5672)
[ ] laryngeal squamous cell carcinoma (DOID:2876)
[ ] larynx cancer (DOID:2596)
[ ] leiomyosarcoma (DOID:1967)
[ ] liposarcoma (DOID:3382)
[ ] liver cancer (DOID:3571)
[ ] liver carcinoma (DOID:686)
[ ] luminal breast carcinoma B (DOID:0080674)
[ ] lung adenocarcinoma (DOID:3910)
[ ] lung cancer (DOID:1324)
[ ] lung large cell carcinoma (DOID:4556)
[ ] lung small cell carcinoma (DOID:5409)
[ ] lung squamous cell carcinoma (DOID:3907)
[ ] lymphoplasmacytic lymphoma (DOID:0050747)
[ ] malignant peripheral nerve sheath tumor (DOID:5940)
[ ] malignant pleural mesothelioma (DOID:7474)
[ ] malignant spindle cell melanoma (DOID:3162)
[ ] mast cell neoplasm (DOID:3664)
[ ] medulloblastoma (DOID:0050902)
[ ] melanoma (DOID:1909)
[ ] mucosal melanoma (DOID:0050929)
[ ] multiple endocrine neoplasia (DOID:3125)
[ ] multiple myeloma (DOID:9538)
[ ] myelodysplastic myeloproliferative cancer (DOID:4972)
[ ] myelodysplastic syndrome (DOID:0050908)
[ ] myelofibrosis (DOID:4971)
[ ] myeloid leukemia (DOID:8692)
[ ] myeloma (DOID:0070004)
[ ] myeloproliferative neoplasm (DOID:2226)
[ ] myxofibrosarcoma (DOID:0080534)
[ ] nasal cavity carcinoma (DOID:4931)
[ ] nasopharynx carcinoma (DOID:9261)
[ ] nephroblastoma (DOID:2154)
[ ] non-Hodgkin lymphoma (DOID:0060060)
[ ] non-small cell lung carcinoma (DOID:3908)
[ ] ocular melanoma (DOID:1752)
[ ] oral cavity cancer (DOID:8618)
[ ] oral squamous cell carcinoma (DOID:0050866)
[ ] ovarian cancer (DOID:2394)
[ ] ovarian carcinoma (DOID:4001)
[ ] ovarian endometrioid neoplasm (DOID:6212)
[ ] ovary serous adenocarcinoma (DOID:5744)
[ ] ovary transitional cell carcinoma (DOID:4000)
[ ] pancreatic acinar cell adenocarcinoma (DOID:5742)
[ ] pancreatic cancer (DOID:1793)
[ ] pancreatic ductal adenocarcinoma (DOID:3498)
[ ] papillary carcinoma (DOID:3113)
[ ] papillary renal cell carcinoma (DOID:4465)
[ ] papillary thyroid carcinoma (DOID:3969)
[ ] paraganglioma (DOID:0050773)
[ ] parathyroid carcinoma (DOID:1540)
[ ] parotid gland cancer (DOID:9036)
[ ] penis carcinoma (DOID:3449)
[ ] peripheral primitive neuroectodermal tumor (DOID:3369)
[ ] peripheral T-cell lymphoma (DOID:0050749)
[ ] pharynx cancer (DOID:0060119)
[ ] pharynx squamous cell carcinoma (DOID:0050921)
[ ] pheochromocytoma (DOID:0050771)
[ ] pineal gland cancer (DOID:5032)
[ ] pituitary adenoma (DOID:3829)
[ ] pituitary cancer (DOID:1785)
[ ] postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma (DOID:7230)
[ ] prolactin producing pituitary tumor (DOID:5396)
[ ] prostate adenocarcinoma (DOID:2526)
[ ] prostate cancer (DOID:10283)
[ ] prostate carcinoma (DOID:10286)
[ ] prostate small cell carcinoma (DOID:7141)
[ ] pseudotumor cerebri (DOID:11459)
[ ] pulmonary neuroendocrine tumor (DOID:5410)
[ ] rectum adenocarcinoma (DOID:1996)
[ ] rectum neuroendocrine neoplasm (DOID:5777)
[ ] renal clear cell carcinoma (DOID:4467)
[ ] renal pelvis carcinoma (DOID:4919)
[ ] renal Wilms' tumor (DOID:5176)
[ ] retroperitoneal neuroblastoma (DOID:0050937)
[ ] rhabdomyosarcoma (DOID:3247)
[ ] salivary gland adenoid cystic carcinoma (DOID:4866)
[ ] salivary gland cancer (DOID:8850)
[ ] salivary gland carcinoma (DOID:0050904)
[ ] sarcoma (DOID:1115)
[ ] sebaceous carcinoma (DOID:4840)
[ ] sigmoid colon cancer (DOID:12192)
[ ] skin benign neoplasm (DOID:3165)
[ ] skin melanoma (DOID:8923)
[ ] skin squamous cell carcinoma (DOID:3151)
[ ] small intestine carcinoma (DOID:4907)
[ ] squamous cell carcinoma (DOID:1749)
[ ] stomach cancer (DOID:10534)
[ ] stomach carcinoma (DOID:5517)
[ ] subacute leukemia (DOID:3264)
[ ] sweat gland carcinoma (DOID:5667)
[ ] T-cell acute lymphoblastic leukemia (DOID:5603)
[ ] teratoma (DOID:3307)
[ ] testicular cancer (DOID:2998)
[ ] testicular germ cell cancer (DOID:5557)
[ ] thymic carcinoma (DOID:3284)
[ ] thymus cancer (DOID:3277)
[ ] thyroid adenoma (DOID:2891)
[ ] thyroid cancer (DOID:1781)
[ ] thyroid carcinoma (DOID:3963)
[ ] thyroid gland anaplastic carcinoma (DOID:0080522)
[ ] thyroid gland follicular carcinoma (DOID:3962)
[ ] thyroid gland Hurthle cell carcinoma (DOID:8161)
[ ] thyroid Hurthle cell adenoma (DOID:8162)
[ ] tongue cancer (DOID:8649)
[ ] trachea squamous cell carcinoma (DOID:12003)
[ ] triple-receptor negative breast cancer (DOID:0060081)
[ ] urethra cancer (DOID:734)
[ ] urinary system cancer (DOID:3996)
[ ] uterine fibroid (DOID:13223)
[ ] vulva squamous cell carcinoma (DOID:2101)
[ ] Waldenstroem's macroglobulinemia (DOID:0060901)
[ ] Zollinger-Ellison syndrome (DOID:0050782)

Metabolic/Inborn Errors (58)

[ ] 3-hydroxyisobutryl-CoA hydrolase deficiency (DOID:0060949)
[ ] 3-Methylcrotonyl-CoA carboxylase 1 deficiency (DOID:0080579)
[ ] 3-Methylcrotonyl-CoA carboxylase 2 deficiency (DOID:0080580)
[ ] 3-methylcrotonyl-CoA carboxylase deficiency (DOID:0050710)
[ ] 3-methylglutaconic aciduria (DOID:0060336)
[ ] aceruloplasminemia (DOID:0050711)
[ ] acquired metabolic disease (DOID:0060158)
[ ] adenine phosphoribosyltransferase deficiency (DOID:0060350)
[ ] adenosine deaminase deficiency (DOID:5810)
[ ] autosomal hemophilia A (DOID:0111823)
[ ] bilirubin metabolic disorder (DOID:2741)
[ ] branched-chain keto acid dehydrogenase kinase deficiency (DOID:0090126)
[ ] C1 inhibitor deficiency (DOID:0060002)
[ ] carbamoyl phosphate synthetase I deficiency disease (DOID:9280)
[ ] cerebrotendinous xanthomatosis (DOID:4810)
[ ] congenital adrenal hyperplasia (DOID:0050811)
[ ] Crigler-Najjar syndrome (DOID:3803)
[ ] disease of metabolism (DOID:0014667)
[ ] factor VIII deficiency (DOID:12134)
[ ] galactokinase deficiency (DOID:14695)
[ ] galactosemia 4 (DOID:0060969)
[ ] gangliosidosis GM1 (DOID:3322)
[ ] gangliosidosis GM2 (DOID:3321)
[ ] glycogen storage disease (DOID:2747)
[ ] glycogen storage disease I (DOID:2749)
[ ] glycogen storage disease II (DOID:2752)
[ ] glycogen storage disease IV (DOID:2750)
[ ] glycogen storage disease XV (DOID:0050579)
[ ] Hartnup disease (DOID:1060)
[ ] inherited metabolic disorder (DOID:655)
[ ] intestinal disaccharidase deficiency (DOID:9868)
[ ] lipid metabolism disorder (DOID:3146)
[ ] lysosomal storage disease (DOID:3211)
[ ] methylmalonic aciduria and homocystinuria type cblC (DOID:0050715)
[ ] methylmalonic aciduria and homocystinuria type cblD (DOID:0050716)
[ ] methylmalonic aciduria and homocystinuria type cblE (DOID:0050732)
[ ] methylmalonic aciduria and homocystinuria type cblG (DOID:0050733)
[ ] methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (DOID:0060740)
[ ] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (DOID:0070540)
[ ] mucopolysaccharidosis I (DOID:12802)
[ ] mucopolysaccharidosis II (DOID:12799)
[ ] mucopolysaccharidosis III (DOID:12801)
[ ] mucopolysaccharidosis IV (DOID:12804)
[ ] mucopolysaccharidosis VI (DOID:12800)
[ ] mucopolysaccharidosis VII (DOID:12803)
[ ] newborn respiratory distress syndrome (DOID:12716)
[ ] ornithine translocase deficiency (DOID:0050720)
[ ] primary immunodeficiency disease (DOID:612)
[ ] purine nucleoside phosphorylase deficiency (DOID:5813)
[ ] purine-pyrimidine metabolic disorder (DOID:653)
[ ] Rh deficiency syndrome (DOID:0050641)
[ ] rickets (DOID:10609)
[ ] severe combined immunodeficiency (DOID:627)
[ ] steroid inherited metabolic disorder (DOID:1701)
[ ] systemic primary carnitine deficiency disease (DOID:14365)
[ ] vitamin B12 deficiency (DOID:0050731)
[ ] vitamin metabolic disorder (DOID:0050718)
[ ] von Willebrand's disease 1 (DOID:0060573)

Neurological (13)

[ ] adrenoleukodystrophy (DOID:10588)
[ ] brain disease (DOID:936)
[ ] central nervous system tuberculosis (DOID:1638)
[ ] cerebrovascular disease (DOID:6713)
[ ] early infantile epileptic encephalopathy (DOID:0050709)
[ ] epilepsy syndrome (DOID:1826)
[ ] epilepsy with generalized tonic-clonic seizures (DOID:7725)
[ ] episodic ataxia (DOID:963)
[ ] motor peripheral neuropathy (DOID:2477)
[ ] neuropathy (DOID:870)
[ ] pilocytic astrocytoma (DOID:4851)
[ ] toxic encephalopathy (DOID:3602)
[ ] transient cerebral ischemia (DOID:224)

Cardiovascular (29)

[ ] Arrhythmia (SYMP:0000287)
[ ] arteriosclerotic cardiovascular disease (DOID:2348)
[ ] aspiration pneumonitis (DOID:3240)
[ ] basal ganglia cerebrovascular disease (DOID:10991)
[ ] cardiovascular system disease (DOID:1287)
[ ] Castleman disease (DOID:0111157)
[ ] congenital heart defect (DOID:1682)
[ ] congestive heart failure (DOID:6000)
[ ] coronary artery vasospasm (DOID:11840)
[ ] dilated cardiomyopathy (DOID:12930)
[ ] diphtheria (DOID:11405)
[ ] familial hypercholesterolemia (DOID:13810)
[ ] heart conduction disease (DOID:10273)
[ ] heart disease (DOID:114)
[ ] heartburn (SYMP:0000439)
[ ] hypertension (DOID:10763)
[ ] intermediate coronary syndrome (DOID:8805)
[ ] Kabuki syndrome (DOID:0060473)
[ ] myocardial infarction (DOID:5844)
[ ] ocular hypertension (DOID:9282)
[ ] panic disorder (DOID:594)
[ ] pericardial tuberculosis (DOID:4962)
[ ] pneumocystosis (DOID:11339)
[ ] postural orthostatic tachycardia syndrome (DOID:0111154)
[ ] Prinzmetal angina (DOID:0111151)
[ ] pseudoxanthoma elasticum (DOID:2738)
[ ] short QT syndrome (DOID:0050793)
[ ] thrombosis (DOID:0060903)
[ ] vasculitis (DOID:865)

Immunological/Inflammatory (21)

[ ] allergic asthma (DOID:9415)
[ ] allergic conjunctivitis (DOID:11204)
[ ] allergic contact dermatitis (DOID:3042)
[ ] allergic hypersensitivity disease (DOID:1205)
[ ] allergic rhinitis (DOID:4481)
[ ] autoimmune hypersensitivity disease (DOID:417)
[ ] autoimmune thrombocytopenic purpura (DOID:8924)
[ ] berylliosis (DOID:10322)
[ ] bullous pemphigoid (DOID:8506)
[ ] Crohn's disease (DOID:8778)
[ ] diarrhea (DOID:13250)
[ ] hidradenitis suppurativa (DOID:2280)
[ ] inflammatory bowel disease (DOID:0050589)
[ ] juvenile rheumatoid arthritis (DOID:676)
[ ] Loeffler syndrome (DOID:9503)
[ ] lupus nephritis (DOID:0080162)
[ ] paroxysmal nocturnal hemoglobinuria (DOID:0060284)
[ ] pleural tuberculosis (DOID:106)
[ ] pulmonary tuberculosis (DOID:2957)
[ ] reactive arthritis (DOID:6196)
[ ] seborrheic dermatitis (DOID:8741)

Infectious (34)

[ ] alcoholic hepatitis (DOID:12351)
[ ] anogenital venereal wart (DOID:11168)
[ ] anthrax disease (DOID:7427)
[ ] bacterial infectious disease (DOID:104)
[ ] Coronavirus infectious disease (DOID:0080599)
[ ] COVID-19 (DOID:0080600)
[ ] cutaneous anthrax (DOID:7426)
[ ] cutaneous leishmaniasis (DOID:9111)
[ ] dengue disease (DOID:12205)
[ ] disease by infectious agent (DOID:0050117)
[ ] extrapulmonary tuberculosis (DOID:0050598)
[ ] fungal infectious disease (DOID:1564)
[ ] gastroenteritis (DOID:2326)
[ ] genital herpes (DOID:8704)
[ ] giardiasis (DOID:10718)
[ ] gonorrhea (DOID:7551)
[ ] hemophagocytic lymphohistiocytosis (DOID:0050120)
[ ] hepatitis (DOID:2237)
[ ] herpes zoster (DOID:8536)
[ ] human cytomegalovirus infection (DOID:0080827)
[ ] influenza (DOID:8469)
[ ] inhalation anthrax (DOID:0050160)
[ ] intestinal infectious disease (DOID:100)
[ ] non-alcoholic steatohepatitis (DOID:0080547)
[ ] parasitic infectious disease (DOID:1398)
[ ] primary bacterial infectious disease (DOID:0050338)
[ ] respiratory syncytial virus infectious disease (DOID:1273)
[ ] rheumatic fever (DOID:1586)
[ ] rhinitis (DOID:4483)
[ ] severe acute respiratory syndrome (DOID:2945)
[ ] sleeping sickness (DOID:10112)
[ ] Stevens-Johnson syndrome (DOID:0050426)
[ ] trichinosis (DOID:9784)
[ ] viral infectious disease (DOID:934)

Skeletal/Connective Tissue (11)

[ ] arthropathy (DOID:381)
[ ] atelosteogenesis (DOID:0050648)
[ ] bone development disease (DOID:0080006)
[ ] bone disease (DOID:0080001)
[ ] diastrophic dysplasia (DOID:14687)
[ ] osteochondrodysplasia (DOID:2256)
[ ] Paget's disease of bone (DOID:5408)
[ ] primary hypertrophic osteoarthropathy (DOID:14283)
[ ] schneckenbecken dysplasia (DOID:0050775)
[ ] spondyloepimetaphyseal dysplasia (DOID:0080027)
[ ] thanatophoric dysplasia (DOID:13481)

Eye/Ophthalmic (21)

[ ] acute closed-angle glaucoma (DOID:13862)
[ ] angle-closure glaucoma (DOID:13550)
[ ] blepharospasm (DOID:529)
[ ] chorioretinitis (DOID:8886)
[ ] cone-rod dystrophy (DOID:0050572)
[ ] conjunctivitis (DOID:6195)
[ ] dystrophies primarily involving the retinal pigment epithelium (DOID:14252)
[ ] eye disease (DOID:5614)
[ ] keratitis (DOID:4677)
[ ] macular corneal dystrophy (DOID:2565)
[ ] macular degeneration (DOID:4448)
[ ] marginal corneal ulcer (DOID:10441)
[ ] open-angle glaucoma (DOID:1067)
[ ] optic neuritis (DOID:1210)
[ ] primary congenital glaucoma (DOID:0050593)
[ ] primary open angle glaucoma (DOID:1070)
[ ] ptosis (DOID:0060260)
[ ] retinal disease (DOID:5679)
[ ] retinitis pigmentosa (DOID:10584)
[ ] sympathetic ophthalmia (DOID:12029)
[ ] uveitis (DOID:13141)

Endocrine (12)

[ ] adrenal gland disease (DOID:9553)
[ ] congenital adrenal insufficiency (DOID:0050546)
[ ] congenital hypothyroidism (DOID:0050328)
[ ] diabetes insipidus (DOID:9409)
[ ] goiter (DOID:12176)
[ ] hyperinsulinemic hypoglycemia (DOID:13317)
[ ] maturity-onset diabetes of the young (DOID:0050524)
[ ] neonatal diabetes mellitus (DOID:11717)
[ ] neurohypophyseal diabetes insipidus (DOID:12388)
[ ] secondary hyperparathyroidism (DOID:12466)
[ ] subacute thyroiditis (DOID:7165)
[ ] type 1 diabetes mellitus (DOID:9744)

Renal (7)

[ ] cystinuria (DOID:9266)
[ ] kidney disease (DOID:557)
[ ] nephrolithiasis (DOID:585)
[ ] renal fibrosis (DOID:0050855)
[ ] renal tubular acidosis (DOID:14219)
[ ] renal tubular transport disease (DOID:447)
[ ] urinary system disease (DOID:18)

Pulmonary (10)

[ ] congenital muscular dystrophy (DOID:0050557)
[ ] idiopathic pulmonary fibrosis (DOID:0050156)
[ ] interstitial lung disease (DOID:3082)
[ ] lipid pneumonia (DOID:3241)
[ ] lung disease (DOID:850)
[ ] pulmonary alveolar microlithiasis (DOID:12117)
[ ] pulmonary alveolar proteinosis (DOID:12120)
[ ] pulmonary edema (DOID:11396)
[ ] pulmonary embolism (DOID:9477)
[ ] respiratory system disease (DOID:1579)

Skin/Dermatologic (12)

[ ] acne (DOID:6543)
[ ] acrodermatitis enteropathica (DOID:0050605)
[ ] arthritis (DOID:848)
[ ] contact dermatitis (DOID:2773)
[ ] dermatitis (DOID:2723)
[ ] dermatitis herpetiformis (DOID:8505)
[ ] eczema (SYMP:0000289)
[ ] epidermal nevus (DOID:0111162)
[ ] oculocutaneous albinism (DOID:0050632)
[ ] scalp dermatosis (DOID:3136)
[ ] skin disease (DOID:37)
[ ] skin sarcoidosis (DOID:13402)

Blood/Hematologic (12)

[ ] acquired thrombocytopenia (DOID:11126)
[ ] anemia (DOID:2355)
[ ] bleeding (SYMP:0000007)
[ ] blood coagulation disease (DOID:1247)
[ ] blood platelet disease (DOID:2218)
[ ] congenital hypoplastic anemia (DOID:1342)
[ ] congenital nonspherocytic hemolytic anemia (DOID:2861)
[ ] hemolytic anemia (DOID:583)
[ ] hypochromic microcytic anemia (DOID:0050642)
[ ] megaloblastic anemia (DOID:13382)
[ ] methemoglobinemia (DOID:10783)
[ ] thrombocytopenia (DOID:1588)

Other (210)

[ ] 46 XY gonadal dysgenesis (DOID:14448)
[ ] achondrogenesis type IB (DOID:0080055)
[ ] acrocephalosyndactylia (DOID:12960)
[ ] actinic keratosis (DOID:8866)
[ ] acute stress disorder (DOID:6088)
[ ] alopecia (DOID:987)
[ ] alopecia universalis (DOID:0050634)
[ ] amelogenesis imperfecta (DOID:2187)
[ ] amenorrhea (DOID:13938)
[ ] amino acid metabolic disorder (DOID:9252)
[ ] Amyloidosis (DOID:9120)
[ ] anorexia nervosa (DOID:8689)
[ ] anovulation (DOID:3781)
[ ] anxiety disorder (DOID:2030)
[ ] aphthous stomatitis (DOID:9663)
[ ] arterial tortuosity syndrome (DOID:0050645)
[ ] ascites (SYMP:0000526)
[ ] atherosclerosis (DOID:1936)
[ ] attention deficit hyperactivity disorder (DOID:1094)
[ ] autism spectrum disorder (DOID:0060041)
[ ] autistic disorder (DOID:12849)
[ ] autosomal dominant nonsyndromic deafness (DOID:0050564)
[ ] autosomal recessive congenital ichthyosis (DOID:0060655)
[ ] autosomal recessive disease (DOID:0050737)
[ ] Bannayan-Riley-Ruvalcaba syndrome (DOID:0050657)
[ ] Barrett's esophagus (DOID:9206)
[ ] Bartter disease (DOID:445)
[ ] Beare-Stevenson cutis gyrata syndrome (DOID:0050660)
[ ] bladder disease (DOID:365)
[ ] blue color blindness (DOID:11661)
[ ] blue cone monochromacy (DOID:0050679)
[ ] brachydactyly (DOID:0050581)
[ ] bradycardia (SYMP:0000231)
[ ] bulimia nervosa (DOID:12129)
[ ] cachexia (SYMP:0000402)
[ ] carbohydrate metabolic disorder (DOID:2978)
[ ] cataract (DOID:83)
[ ] cholelithiasis (DOID:10211)
[ ] choroiditis (DOID:11406)
[ ] chronic spontaneous urticaria (DOID:0080749)
[ ] citrullinemia (DOID:9273)
[ ] colicky pain (SYMP:0000236)
[ ] color blindness (DOID:13399)
[ ] congenital disorder of glycosylation (DOID:5212)
[ ] congenital disorder of glycosylation type I (DOID:0050570)
[ ] congenital disorder of glycosylation type II (DOID:0050571)
[ ] congenital myasthenic syndrome (DOID:3635)
[ ] congenital stationary night blindness (DOID:0050534)
[ ] convulsion (SYMP:0000596)
[ ] cough (SYMP:0000614)
[ ] Cowden syndrome (DOID:6457)
[ ] craniosynostosis (DOID:2340)
[ ] cryptorchidism (DOID:11383)
[ ] depression (SYMP:0000022)
[ ] developmental disorder of mental health (DOID:0060037)
[ ] disease (DOID:4)
[ ] disease of cellular proliferation (DOID:14566)
[ ] disease of mental health (DOID:150)
[ ] disorder of sexual development (DOID:1923)
[ ] distal arthrogryposis (DOID:0050646)
[ ] diverticulitis (DOID:7475)
[ ] drug-induced hearing loss (DOID:0070310)
[ ] Dubin-Johnson syndrome (DOID:12308)
[ ] duodenal ulcer (DOID:1724)
[ ] dysgerminoma of ovary (DOID:5511)
[ ] dyspepsia (SYMP:0000422)
[ ] edema (SYMP:0000538)
[ ] endocrine system disease (DOID:28)
[ ] endogenous depression (DOID:1595)
[ ] eosinophilic esophagitis (DOID:13922)
[ ] epicondylitis (DOID:14087)
[ ] epistaxis (SYMP:0000448)
[ ] esophagitis (DOID:11963)
[ ] extrapyramidal and movement disease (DOID:13839)
[ ] familial atrial fibrillation (DOID:0050650)
[ ] familial hyperlipidemia (DOID:1168)
[ ] female reproductive system disease (DOID:229)
[ ] fever (SYMP:0000613)
[ ] fibrous histiocytoma (DOID:4415)
[ ] fundus albipunctatus (DOID:11105)
[ ] gastritis (DOID:4029)
[ ] genetic disease (DOID:630)
[ ] Gilbert syndrome (DOID:2739)
[ ] Gilles de la Tourette syndrome (DOID:11119)
[ ] gingivitis (DOID:3087)
[ ] Gitelman syndrome (DOID:0050450)
[ ] glucose intolerance (DOID:10603)
[ ] hemorrhoid (DOID:9746)
[ ] hereditary angioedema (DOID:14735)
[ ] hereditary fructose intolerance syndrome (DOID:9869)
[ ] hereditary multiple exostoses (DOID:206)
[ ] hereditary spastic paraplegia (DOID:2476)
[ ] histiocytoma (DOID:4231)
[ ] histiocytosis (DOID:3405)
[ ] holoprosencephaly (DOID:4621)
[ ] Horner's syndrome (DOID:11486)
[ ] hyperargininemia (DOID:9278)
[ ] hypercalcemia (DOID:12678)
[ ] hypereosinophilic syndrome (DOID:999)
[ ] hyperglycemia (DOID:4195)
[ ] hypermethioninemia (DOID:0050544)
[ ] hyperphosphatemia (DOID:0050459)
[ ] hyperprolactinemia (DOID:12700)
[ ] hypertrichosis (DOID:420)
[ ] hypoactive sexual desire disorder (DOID:13868)
[ ] hypoglycemia (DOID:9993)
[ ] hypogonadism (DOID:1924)
[ ] hyponatremia (SYMP:0019146)
[ ] hypophosphatemia (DOID:0050336)
[ ] hypotension (SYMP:0000059)
[ ] hypotrichosis (DOID:4535)
[ ] impotence (DOID:1875)
[ ] inclusion body myositis (DOID:3429)
[ ] infertility (DOID:5223)
[ ] inflammation (SYMP:0000061)
[ ] insomnia (SYMP:0000571)
[ ] intermittent claudication (DOID:3669)
[ ] intracranial vasospasm (DOID:13100)
[ ] intrahepatic cholestasis (DOID:1852)
[ ] iridocyclitis (DOID:9383)
[ ] iritis (DOID:1406)
[ ] keratoacanthoma (DOID:3149)
[ ] keratoconjunctivitis (DOID:9368)
[ ] lactic acidosis (DOID:3650)
[ ] lactose intolerance (DOID:10604)
[ ] Larsen syndrome (DOID:14764)
[ ] Leber congenital amaurosis (DOID:14791)
[ ] Lennox-Gastaut syndrome (DOID:0050561)
[ ] LEOPARD syndrome (DOID:14291)
[ ] Lesch-Nyhan syndrome (DOID:1919)
[ ] listeriosis (DOID:11573)
[ ] macroglobulinemia (DOID:9080)
[ ] malignant fibrous histiocytoma (DOID:1907)
[ ] malignant peritoneal mesothelioma (DOID:1788)
[ ] mastocytosis (DOID:350)
[ ] menorrhagia (SYMP:0000756)
[ ] microphthalmia (DOID:10629)
[ ] motion sickness (DOID:2951)
[ ] muscular atrophy (DOID:767)
[ ] muscular dystrophy-dystroglycanopathy (DOID:0050588)
[ ] mycosis fungoides (DOID:8691)
[ ] mydriasis (SYMP:0000396)
[ ] myopathy (DOID:423)
[ ] nasal congestion (SYMP:0000869)
[ ] nausea (SYMP:0000458)
[ ] nervous system disease (DOID:863)
[ ] neurodegenerative disease (DOID:1289)
[ ] neurofibromatosis (DOID:8712)
[ ] neuroleptic malignant syndrome (DOID:14464)
[ ] neuropathic pain (SYMP:0000832)
[ ] neurotic disorder (DOID:4964)
[ ] nocturnal enuresis (SYMP:0000606)
[ ] non-specific X-linked mental retardation (DOID:0050776)
[ ] obsessive-compulsive disorder (DOID:10933)
[ ] oral mucosa leukoplakia (DOID:9655)
[ ] orofacial cleft (DOID:0050567)
[ ] otitis media (DOID:10754)
[ ] ovarian dysfunction (DOID:1414)
[ ] pain (SYMP:0000099)
[ ] pancreatitis (DOID:4989)
[ ] peptic ulcer disease (DOID:750)
[ ] pericarditis (DOID:1787)
[ ] pervasive developmental disorder (DOID:0060040)
[ ] polyarteritis nodosa (DOID:9810)
[ ] polymyalgia rheumatica (DOID:853)
[ ] post-traumatic stress disorder (DOID:2055)
[ ] posterior uveitis (DOID:12574)
[ ] premature ejaculation (DOID:13709)
[ ] premature labor (SYMP:0000358)
[ ] prostatic hypertrophy (DOID:11132)
[ ] protein-losing enteropathy (DOID:10611)
[ ] pseudohermaphroditism (DOID:3765)
[ ] psychotic disorder (DOID:2468)
[ ] red color blindness (DOID:13910)
[ ] red-green color blindness (DOID:13909)
[ ] relapsing polychondritis (DOID:2556)
[ ] restless legs syndrome (DOID:0050425)
[ ] rheumatic myocarditis (DOID:8481)
[ ] rosacea (DOID:8881)
[ ] salivary gland disease (DOID:10854)
[ ] seasonal affective disorder (DOID:0060167)
[ ] seborrheic keratosis (DOID:6498)
[ ] secretory diarrhea (DOID:0050129)
[ ] seizure (SYMP:0000124)
[ ] sensorineural hearing loss (DOID:10003)
[ ] septic shock (SYMP:0000451)
[ ] severe congenital neutropenia (DOID:0050590)
[ ] Sezary's disease (DOID:8541)
[ ] sialuria (DOID:3659)
[ ] simple partial seizure (SYMP:0000270)
[ ] spondylocostal dysostosis (DOID:0050568)
[ ] stroke (SYMP:0000734)
[ ] syndactyly (DOID:11193)
[ ] syndrome (DOID:225)
[ ] syndromic intellectual disability (DOID:0050888)
[ ] synovitis (DOID:2703)
[ ] Tachycardia (SYMP:0000529)
[ ] Tangier disease (DOID:1388)
[ ] temporal arteritis (DOID:13375)
[ ] tenosynovitis (DOID:970)
[ ] testis seminoma (DOID:5842)
[ ] thrombophilia (DOID:2452)
[ ] thymoma (DOID:3275)
[ ] tic disorder (DOID:2769)
[ ] Turner syndrome (DOID:3491)
[ ] urge incontinence (SYMP:0000532)
[ ] urinary incontinence (SYMP:0000492)
[ ] venous insufficiency (DOID:10128)
[ ] vestibular disease (DOID:3426)
[ ] vomiting (SYMP:0019145)

NOTES

2026-03-03

Initial catalogue created from Reactome Content Service API
770 disease entries (735 DOID-mapped, 35 SYMP-mapped)
110 strict name matches to existing dismech entries
Categorization is approximate (keyword-based); some entries may be miscategorized
Next steps: prioritize diseases with rich Reactome pathway annotations for new dismech entries; use Reactome pathway data to enrich existing entries