Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10,911 rare diseases

OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma

ORPHA:98617

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: C1 inhibitor deficiency

ORPHA:459353

OBSOLETE: Canthal anomaly

ORPHA:98572

OBSOLETE: Carcinoma of stomach, salivary gland type

OBSOLETE: Gastric carcinoma, salivary gland type

ORPHA:423781

OBSOLETE: Cardiac disease with cataract

ORPHA:98647

OBSOLETE: Cardiomyopathy-renal anomalies syndrome

ORPHA:90022

OBSOLETE: Cardioskeletal syndrome

ORPHA:98734

OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome

OBSOLETE: Karandikar-Maria-Kamble syndrome

ORPHA:1381

OBSOLETE: Cataract, Hutterite type

ORPHA:98987

OBSOLETE: Catecholamine-producing tumor

ORPHA:717

OBSOLETE: Central polydactyly of fingers, bilateral

OBSOLETE: Mirror hand, bilateral · OBSOLETE: Mesoaxial polydactyly of fingers, bilateral

ORPHA:295173

OBSOLETE: Central polydactyly of fingers, unilateral

OBSOLETE: Mesoaxial polydactyly of fingers, unilateral · OBSOLETE: Mirror hand, unilateral

ORPHA:295171

OBSOLETE: Central polydactyly of toes

OBSOLETE: Mirror foot · OBSOLETE: Central polydactyly of foot

ORPHA:295010

OBSOLETE: Central polydactyly of toes, bilateral

OBSOLETE: Mirror foot, bilateral · OBSOLETE: Mesoaxial polydactyly of toes, bilateral

ORPHA:295185

OBSOLETE: Central polydactyly of toes, unilateral

OBSOLETE: Mirror foot, unilateral · OBSOLETE: Mesoaxial polydactyly of toes, unilateral

ORPHA:295183

OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa

OBSOLETE: Centripetal dystrophic epidermolysis bullosa · OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa

ORPHA:89841

OBSOLETE: Cerebral disease with cataract

ORPHA:98645

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1

OBSOLETE: CAMS1

ORPHA:141194

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

OBSOLETE: Bonnet-Dechaume-Blanc syndrome · OBSOLETE: CAMS2

ORPHA:53719

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3

OBSOLETE: CAMS3

ORPHA:141199

OBSOLETE: Cerebrorenodigital syndrome

ORPHA:1396

OBSOLETE: Cervical dystonia

ORPHA:93962

OBSOLETE: Cervical spina bifida aperta

ORPHA:268392

OBSOLETE: Cervical spina bifida cystica

ORPHA:268762

OBSOLETE: Cervicofacial lymphatic malformation

ORPHA:137923

OBSOLETE: Cervicothoracic spina bifida aperta

ORPHA:268397

OBSOLETE: Cervicothoracic spina bifida cystica

ORPHA:268766

OBSOLETE: Channelopathy

ORPHA:140503

OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect

ORPHA:98106

OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect

ORPHA:98112

OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect

ORPHA:98125

OBSOLETE: Channelopathy due to a neuronal glycine receptor defect

ORPHA:98122

OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect

ORPHA:98123

OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect

ORPHA:98124

OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect

ORPHA:98111

OBSOLETE: Channelopathy due to a transient receptor potential channel defect

ORPHA:98104

OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect

ORPHA:98108

OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect

ORPHA:98103

OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect

ORPHA:98107

OBSOLETE: Channelopathy due to an epithelial sodium channel defect

ORPHA:98110

OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect

ORPHA:98102

OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels

ORPHA:98105

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

ORPHA:79506

OBSOLETE: Chondrodysplasia punctata, Sheffield type

ORPHA:79344

OBSOLETE: Chondrodysplastic malformation syndrome

ORPHA:139015

OBSOLETE: Choristoma

ORPHA:91353

OBSOLETE: Choroideremia-hypopituitarism syndrome

OBSOLETE: CHM-hypopituitarism syndrome

ORPHA:1434