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: Congenital ichthyosis with trichothiodystrophy

ORPHA:281234

OBSOLETE: Congenital liver hemangioma

OBSOLETE: Congenital hepatic hemangioma

ORPHA:238691

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome

ORPHA:329206

OBSOLETE: Congenital myopathy with central nuclei

ORPHA:172979

OBSOLETE: Congenital myopathy with fiber size variation

ORPHA:172982

OBSOLETE: Congenital myopathy with protein accumulation

ORPHA:172973

OBSOLETE: Congenital myopathy with vacuoles

ORPHA:172985

OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly

OBSOLETE: Apertura pyriformis with holoprosencephaly

ORPHA:162521

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

OBSOLETE: Congenital patella dislocation, bilateral

ORPHA:295237

OBSOLETE: Congenital patella dislocation, unilateral

ORPHA:295234

OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance

OBSOLETE: CSID with minimal starch tolerance · OBSOLETE: Disaccharide intolerance with minimal starch tolerance

ORPHA:306446

OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance

OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance · OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance

ORPHA:306474

OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance

OBSOLETE: CSID with starch intolerance · OBSOLETE: Disaccharide intolerance with starch intolerance

ORPHA:306436

OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance

OBSOLETE: CSID without starch intolerance · OBSOLETE: Disaccharide intolerance without starch intolerance

ORPHA:306462

OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance

OBSOLETE: CSID without sucrose intolerance · OBSOLETE: Disaccharide intolerance without sucrose intolerance

ORPHA:306486

OBSOLETE: Congenital systemic arteriovenous fistula

ORPHA:2039

OBSOLETE: Congenital unilateral pulmonary hypoplasia

ORPHA:2258

OBSOLETE: Congenital upper palpebral retraction

ORPHA:98579

OBSOLETE: Congenital valvular dysplasia

ORPHA:1864

OBSOLETE: Congenital vascular bone syndrome with limb overgrowth

ORPHA:235835

OBSOLETE: Congenital vascular bone syndrome with limb shortening

ORPHA:235838

OBSOLETE: Congenital vitreoretinal dysplasia

ORPHA:98669

OBSOLETE: Conjunctival hemangioma or hemolymphangioma

ORPHA:98612

OBSOLETE: Conjunctival lymphangiectasia

ORPHA:98614

OBSOLETE: Conjunctival telangiectasia

ORPHA:98613

OBSOLETE: Conjunctival tumor

ORPHA:98616

OBSOLETE: Conjunctival vascular anomaly

ORPHA:98611

OBSOLETE: Connective tissue disease with eye involvement

ORPHA:98702

OBSOLETE: Coppock-like cataract

ORPHA:98986

OBSOLETE: Corneoiridogoniodysgenesis

ORPHA:98636

OBSOLETE: Coronary artery intramyocardial course

ORPHA:99085

OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

OBSOLETE: Ben Ari-Shuper-Mimouni syndrome

ORPHA:1492

OBSOLETE: Cortada-Koussef-Matsumoto syndrome

ORPHA:1499

OBSOLETE: Corticobasal degeneration

ORPHA:278

OBSOLETE: Cowpox infection

ORPHA:391658

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

ORPHA:1339

OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome

OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome

ORPHA:1789

OBSOLETE: Craniofaciocervical osteoglyphic dysplasia

OBSOLETE: Bazopoulou-Kyrkanidou syndrome

ORPHA:1800

OBSOLETE: Craniosynostosis syndrome or cranial ossification disease

ORPHA:93452

OBSOLETE: Craniosynostosis-cataract syndrome

ORPHA:1530

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type

OBSOLETE: Imaizumi-Kuroki syndrome

ORPHA:1534

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

ORPHA:1526

OBSOLETE: Cryptosporidiosis

ORPHA:1549

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

ORPHA:553

OBSOLETE: Cys-loop receptor channelopathy

ORPHA:98121

OBSOLETE: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

ORPHA:1562