Loading disease data
| Disease | Prevalence | Drugs | Proteins | |
|---|---|---|---|---|
| Intellectual developmental disorder, autosomal dominant 54 (MRD54) | N/A | — | 2 | |
| Intellectual developmental disorder, X-linked 30 (XLID30) | N/A | — | 2 | |
| ACCES syndrome (ACCES) | Uncommon | — | 1 | |
| Adiponectin deficiency (ADPOD) | N/A | — | 1 | |
| Amegakaryocytic thrombocytopenia, congenital, 2 (CAMT2) | N/A | — | 1 | |
| Amelogenesis imperfecta, hypomaturation type, 2A1 (AI2A1) | Common | — | 1 | |
| Aplasia of lacrimal and salivary glands (ALSG) | N/A | — | 1 | |
| Athabaskan brainstem dysgenesis syndrome (ABDS) | Ultra-Rare | — | 1 | |
| Autoinflammation with arthritis and vasculitis (AIARV) | N/A | — | 1 | |
| Autoinflammation with episodic fever and lymphadenopathy (AIEFL) | N/A | — | 1 | |
| Burn-McKeown syndrome (BMKS) | Ultra-Rare | — | 1 | |
| Cardioacrofacial dysplasia 1 (CAFD1) | Common | — | 1 | |
| Cardioacrofacial dysplasia 2 (CAFD2) | Common | — | 1 | |
| Carney complex 1 (CNC1) | Ultra-Rare | — | 1 | |
| Carpal tunnel syndrome 2 (CTS2) | N/A | 17 | 1 | |
| CLAPO syndrome (CLAPO) | Ultra-Rare | — | 1 | |
| Cleidocranial dysplasia 2 (CLCD2) | Very Rare | — | 1 | |
| Cohen-Gibson syndrome (COGIS) | Ultra-Rare | — | 1 | |
| Cole disease (COLED) | Ultra-Rare | — | 1 | |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) | Ultra-Rare | — | 1 | |
| Cornelia de Lange syndrome 5 (CDLS5) | Very Rare | 2 | 1 | |
| Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) | N/A | — | 1 | |
| Diabetes, deafness, developmental delay, and short stature syndrome (DDDS) | N/A | — | 1 | |
| Digital clubbing, isolated congenital (DIGC) | N/A | — | 1 | |
| Disabling pansclerotic morphea of childhood (DPMC) | N/A | — | 1 | |
| Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) | Ultra-Rare | — | 1 | |
| Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) | N/A | — | 1 | |
| Familial apolipoprotein gene cluster deletion syndrome (FAPLDS) | N/A | — | 1 | |
| Faundes-Banka syndrome (FABAS) | N/A | — | 1 | |
| Feingold syndrome 1 (FGLDS1) | Ultra-Rare | — | 1 | |
| FICUS syndrome (FICUS) | N/A | — | 1 | |
| Galloway-Mowat syndrome 4 (GAMOS4) | Very Rare | — | 1 | |
| Hemifacial myohyperplasia (HFMH) | Ultra-Rare | — | 1 | |
| Hereditary intrinsic factor deficiency (IFD) | Ultra-Rare | — | 1 | |
| Heyn-Sproul-Jackson syndrome (HESJAS) | Ultra-Rare | — | 1 | |
| Houge-Janssens syndrome 2 (HJS2) | Ultra-Rare | — | 1 | |
| Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) | N/A | — | 1 | |
| Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) | Rare | — | 1 | |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) | Ultra-Rare | — | 1 | |
| Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) | Ultra-Rare | — | 1 | |
| Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF) | Ultra-Rare | — | 1 | |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) | N/A | — | 1 | |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) | N/A | — | 1 | |
| Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) | N/A | — | 1 | |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) | N/A | — | 1 | |
| Intellectual developmental disorder, autosomal dominant 48 (MRD48) | Ultra-Rare | — | 1 | |
| Joubert syndrome 22 (JBTS22) | Very Rare | — | 1 | |
| Keipert syndrome (KPTS) | Ultra-Rare | — | 1 | |
| Kury-Isidor syndrome (KURIS) | N/A | — | 1 | |
| Lessel-Kreienkamp syndrome (LESKRES) | N/A | — | 1 |