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"

65 matching diseasesClear search ×

OBSOLETE: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

ORPHA:1562

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

ORPHA:99893

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome

ORPHA:1034

OBSOLETE: Angioosteohypertrophic syndrome

OBSOLETE: Klippel-Trénaunay-Weber syndrome

ORPHA:2346

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

ORPHA:93604

OBSOLETE: ATR-X-related syndrome

ORPHA:263355

OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly

OBSOLETE: Trueb-Burg-Bottani syndrome

ORPHA:3357

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

ORPHA:169446

OBSOLETE: AymÚ-Gripp syndrome

ORPHA:477668

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

ORPHA:1250

OBSOLETE: Cardioskeletal syndrome

ORPHA:98734

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

OBSOLETE: Karandikar-Maria-Kamble syndrome

ORPHA:1381

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

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

ORPHA:53719

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

OBSOLETE: Ben Ari-Shuper-Mimouni syndrome

ORPHA:1492

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

ORPHA:1339

OBSOLETE: Craniofaciocervical osteoglyphic dysplasia

OBSOLETE: Bazopoulou-Kyrkanidou syndrome

ORPHA:1800

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

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

ORPHA:1526

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

ORPHA:553

OBSOLETE: Deafness-white hair-contractures-papillomas syndrome

OBSOLETE: Davenport-Donlan syndrome

ORPHA:3215

OBSOLETE: Dennis-Cohen syndrome

ORPHA:1651

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

ORPHA:2454

OBSOLETE: Heckenlively syndrome

ORPHA:2120

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

ORPHA:2129

OBSOLETE: Ichthyosis-cheek-eyebrow syndrome

OBSOLETE: Sidransky-Feinstein-Goodman syndrome

ORPHA:2267

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

ORPHA:3050

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

ORPHA:3313

OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type

OBSOLETE: Davis-Lafer syndrome

ORPHA:3046

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

ORPHA:435

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

ORPHA:2005

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

ORPHA:2621

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

ORPHA:844

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

ORPHA:2474

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

ORPHA:85281

OBSOLETE: Mickleson syndrome

ORPHA:2507

OBSOLETE: Neonatal epilepsy syndrome

ORPHA:98257

OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome

OBSOLETE: Maccario-Mena syndrome

ORPHA:2675

OBSOLETE: Oculo-skeletal-renal syndrome

ORPHA:2716

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

ORPHA:2705

OBSOLETE: Oculocerebroacral syndrome

ORPHA:2706

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

ORPHA:2708

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

ORPHA:2756

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

ORPHA:141327

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

ORPHA:141330

OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

OBSOLETE: Heide syndrome

ORPHA:2787

OBSOLETE: Otopalatodigital syndrome

ORPHA:669

OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

OBSOLETE: Fitzsimmons-Guilbert syndrome

ORPHA:2823