Browse 200 diseases
Curated MONDO disease pages with associated genes (Open Targets), Orphanet rare-disease IDs, and OMIM cross-references. Free for clinical geneticists and researchers.
200 rare
Featured diseases
A20
- acute kidney injuryMONDO:0002492Rare
- alcohol dependenceMONDO:0007079Rare
- allergic diseaseMONDO:0005271Rare
- alopeciaMONDO:0004907Rare
- alpha thalassemia-intellectual disability syndrome type 1MONDO:0007716Rare
- alpha-thalassemia-myelodysplastic syndromeMONDO:0010328Rare
- Alzheimer diseaseMONDO:0004975Rare
- amelogenesis imperfectaMONDO:0019507Rare
- amyotrophic lateral sclerosisMONDO:0004976Rare
- anemiaMONDO:0002280Rare
- arthrogryposis multiplex congenitaMONDO:0015168Rare
- asthmaMONDO:0004979Rare
- ataxia telangiectasiaMONDO:0008840Rare
- attention deficit-hyperactivity disorder 8MONDO:0859261Rare
- autosomal dominant macrothrombocytopeniaMONDO:0015372Rare
- autosomal dominant non-syndromic intellectual disabilityMONDO:0015802Rare
- autosomal dominant nonsyndromic hearing lossMONDO:0019587Rare
- autosomal recessive non-syndromic intellectual disabilityMONDO:0019502Rare
- autosomal recessive nonsyndromic hearing loss 9MONDO:0010986Rare
- autosomal recessive primary microcephalyMONDO:0016660Rare
B7
C26
- cancerMONDO:0004992Rare
- carcinoma of liver and intrahepatic biliary tractMONDO:0018531Rare
- cataractMONDO:0005129Rare
- catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990Rare
- cerebellar ataxiaMONDO:0000437Rare
- cervical cancerMONDO:0002974Rare
- Charcot-Marie-Tooth diseaseMONDO:0015626Rare
- childhood onset asthmaMONDO:0005405Rare
- choroidal dystrophy, central areolar, 1MONDO:0024539Rare
- cleft palateMONDO:0016064Rare
- colorectal cancerMONDO:0005575Rare
- combined immunodeficiencyMONDO:0015131Rare
- combined immunodeficiency with skin granulomasMONDO:0009306Rare
- common variable immunodeficiencyMONDO:0015517Rare
- complement deficiencyMONDO:0003832Rare
- complex neurodevelopmental disorderMONDO:0100038Rare
- cone-rod dystrophyMONDO:0015993Rare
- congenital anomaly of kidney and urinary tractMONDO:0019719Rare
- congenital disorder of glycosylationMONDO:0015286Rare
- congenital myasthenic syndromeMONDO:0018940Rare
- congenital myopathyMONDO:0019952Rare
- corneal ulcerMONDO:0004577Rare
- coronary atherosclerosisMONDO:0021661Rare
- COVID-19MONDO:0100096Rare
- craniosynostosisMONDO:0015469Rare
- cystic fibrosisMONDO:0009061Rare
D9
- deficiency anemiaMONDO:0001639Rare
- dehydrated hereditary stomatocytosisMONDO:0017910Rare
- delta-beta-thalassemiaMONDO:0016489Rare
- dementiaMONDO:0001627Rare
- depressive disorderMONDO:0002050Rare
- dermatitisMONDO:0002406Rare
- developmental and epileptic encephalopathyMONDO:0100620Rare
- dominant beta-thalassemiaMONDO:0011381Rare
- Duchenne muscular dystrophyMONDO:0010679Rare
E9
- early-onset non-syndromic cataractMONDO:0011060Rare
- early-onset nuclear cataractMONDO:0020376Rare
- early-onset zonular cataractMONDO:0020379Rare
- Ehlers-Danlos syndromeMONDO:0020066Rare
- endometrial cancerMONDO:0011962Rare
- enteritisMONDO:0043579Rare
- esophageal cancerMONDO:0007576Rare
- essential hypertensionMONDO:0001134Rare
- exostosisMONDO:0002181Rare
F5
G7
H21
- hearing loss, autosomal recessiveMONDO:0019588Rare
- hemangioblastomaMONDO:0016748Rare
- hemoglobin D diseaseMONDO:0019537Rare
- hemoglobin E diseaseMONDO:0016243Rare
- hemoglobin E-beta-thalassemia syndromeMONDO:0016491Rare
- hereditary attention deficit-hyperactivity disorderMONDO:0100518Rare
- hereditary breast carcinomaMONDO:0016419Rare
- hereditary breast ovarian cancer syndromeMONDO:0003582Rare
- hereditary hyperferritinemia with congenital cataractsMONDO:0010952Rare
- hereditary neoplastic syndromeMONDO:0015356Rare
- hereditary persistence of fetal hemoglobin-sickle cell…MONDO:0016672Rare
- hereditary spastic paraplegiaMONDO:0019064Rare
- Hirschsprung diseaseMONDO:0018309Rare
- Huntington diseaseMONDO:0007739Rare
- hydrops fetalisMONDO:0015193Rare
- hyperinsulinemic hypoglycemia, familial, 4MONDO:0012382Rare
- hyperinsulinism due to INSR deficiencyMONDO:0012381Rare
- hyperlipidemiaMONDO:0021187Rare
- hypertriglyceridemia 2MONDO:0859149Rare
- hypogonadotropic hypogonadismMONDO:0018555Rare
- hypoparathyroidism, familial isolated, 2MONDO:0020798Rare
I9
- immunodeficiency 18MONDO:0014278Rare
- immunodeficiency diseaseMONDO:0021094Rare
- infantile spasmsMONDO:0018097Rare
- inherited retinal dystrophyMONDO:0019118Rare
- inosine triphosphatase deficiencyMONDO:0013461Rare
- intellectual disability, autosomal recessive 59MONDO:0015020Rare
- isolated agammaglobulinemiaMONDO:0016462Rare
- isolated asymptomatic elevation of creatine phosphokinaseMONDO:0016103Rare
- isolated ectopia lentisMONDO:0015998Rare
J2
K1
L9
- Leber congenital amaurosisMONDO:0018998Rare
- left ventricular noncompactionMONDO:0018901Rare
- Leigh syndromeMONDO:0009723Rare
- Lennox-Gastaut syndromeMONDO:0016532Rare
- leukodystrophyMONDO:0019046Rare
- limb-girdle muscular dystrophyMONDO:0016971Rare
- liver cancerMONDO:0002691Rare
- lung cancerMONDO:0008903Rare
- lysosomal storage diseaseMONDO:0002561Rare
M13
- major depressive disorderMONDO:0002009Rare
- maturity-onset diabetes of the young type 10MONDO:0013240Rare
- maturity-onset diabetes of the young type 3MONDO:0010894Rare
- Meckel syndromeMONDO:0018921Rare
- microcephalyMONDO:0001149Rare
- migraine disorderMONDO:0005277Rare
- mitochondrial complex I deficiencyMONDO:0100133Rare
- mitochondrial diseaseMONDO:0044970Rare
- Miyoshi myopathyMONDO:0009685Rare
- multinodular goiterMONDO:0000334Rare
- multiple sclerosisMONDO:0005301Rare
- muscular dystrophyMONDO:0020121Rare
- myopiaMONDO:0001384Rare
N8
- nasopharyngeal carcinomaMONDO:0015459Rare
- nephronophthisisMONDO:0019005Rare
- neural tube defects, folate-sensitiveMONDO:0011120Rare
- neutropenia, severe congenital, 2, autosomal dominantMONDO:0013139Rare
- Nijmegen breakage syndromeMONDO:0009623Rare
- nonpapillary renal cell carcinomaMONDO:0007763Rare
- nonsyndromic genetic hearing lossMONDO:0019497Rare
- Noonan syndromeMONDO:0018997Rare
O5
P10
- pachyonychia congenitaMONDO:0016471Rare
- pancreatic ductal adenocarcinomaMONDO:0005184Rare
- Parkinson diseaseMONDO:0005180Rare
- partial chromosome Y deletionMONDO:0015607Rare
- polydactylyMONDO:0021003Rare
- posterior cortical atrophyMONDO:0018899Rare
- primary ciliary dyskinesiaMONDO:0016575Rare
- prostate cancerMONDO:0008315Rare
- protozoa infectious diseaseMONDO:0002428Rare
- pulverulent cataractMONDO:0011430Rare
R4
S19
- sarcoidosisMONDO:0019338Rare
- schizophreniaMONDO:0005090Rare
- schizophrenia 15MONDO:0013498Rare
- severe early-childhood-onset retinal dystrophyMONDO:0009549Rare
- skeletal dysplasiaMONDO:0018230Rare
- skin basal cell carcinomaMONDO:0005341Rare
- skin cancerMONDO:0002898Rare
- skin squamous cell carcinomaMONDO:0002529Rare
- spastic ataxiaMONDO:0017845Rare
- spermatogenic failure 65MONDO:0030531Rare
- spermatogenic failure 84MONDO:0957301Rare
- spermatogenic failure 93MONDO:0971000Rare
- spinal cord injuryMONDO:0043797Rare
- Stargardt diseaseMONDO:0019353Rare
- substance abuseMONDO:0002491Rare
- substance-related disorderMONDO:0002494Rare
- superficial spreading melanomaMONDO:0020638Rare
- syndromic intellectual disabilityMONDO:0000508Rare
- systemic lupus erythematosusMONDO:0007915Rare