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"

88 matching diseasesClear search ×

OBSOLETE: MECP2 duplication syndrome

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

ORPHA:85281

OBSOLETE: Melanoma-pancreatic cancer syndrome

ORPHA:51013

OBSOLETE: Mickleson syndrome

ORPHA:2507

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

ORPHA:2543

OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome

OBSOLETE: Maccario-Mena syndrome

ORPHA:2675

OBSOLETE: Oculo-skeletal-renal syndrome

ORPHA:2716

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: Pediatric Sjögren syndrome

ORPHA:93566

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

ORPHA:263558

OBSOLETE: Pilotto syndrome

ORPHA:2894

OBSOLETE: Platyspondylic lethal chondrodysplasia

OBSOLETE: Akaba-Hayasaka syndrome

ORPHA:1417

OBSOLETE: Rare non-syndromic cataract

ORPHA:217049

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

OBSOLETE: Say-Field-Coldwell syndrome

OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome

ORPHA:3133

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

ORPHA:1088

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

ORPHA:2861

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

ORPHA:98932

OBSOLETE: Solitary median maxillary central incisor syndrome

OBSOLETE: SMMCI · OBSOLETE: Single upper central incisor

ORPHA:2286

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

ORPHA:1680

OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

OBSOLETE: Casamassima-Morton-Nance syndrome

ORPHA:94095

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

ORPHA:255199

OBSOLETE: Syndromic chorioretinal dystrophy

ORPHA:519321

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

ORPHA:519325

OBSOLETE: Syndromic lymphedema

ORPHA:89832

OBSOLETE: Syndromic macular dystrophy

ORPHA:519323

OBSOLETE: Syndromic myopia

ORPHA:98620

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

ORPHA:98661

OBSOLETE: Syndromic vitreoretinopathy

ORPHA:519327

OBSOLETE: Taussig-Bing syndrome

ORPHA:101042

OBSOLETE: Torres-Aybar syndrome

ORPHA:3340

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

ORPHA:3362

OBSOLETE: Van den Bosch syndrome

ORPHA:3417

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

ORPHA:306597

OBSOLETE: Zlotogura-Martinez syndrome

ORPHA:101036