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: Melanoma-pancreatic cancer syndrome

ORPHA:51013

OBSOLETE: Mickleson syndrome

ORPHA:2507

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

ORPHA:2543

OBSOLETE: Neonatal epilepsy syndrome

ORPHA:98257

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: Partial prune belly syndrome

ORPHA:93178

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: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

OBSOLETE: Stoll-Lévy-Francfort syndrome · OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome

ORPHA:2878

OBSOLETE: Pilotto syndrome

ORPHA:2894

OBSOLETE: Pitt-Hopkins-like syndrome

ORPHA:221150

OBSOLETE: Platyspondylic lethal chondrodysplasia

OBSOLETE: Akaba-Hayasaka syndrome

ORPHA:1417

OBSOLETE: Pulmonary aortic stenosis obstructive uropathy

OBSOLETE: Kashani-Strom-Utley syndrome

ORPHA:1137

OBSOLETE: Ramsay Hunt syndrome type II

ORPHA:412220

OBSOLETE: Rosselli-Gulienetti syndrome

ORPHA:90339

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: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

ORPHA:1680

OBSOLETE: Sporadic Leigh syndrome

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

ORPHA:255199

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

ORPHA:391479

OBSOLETE: Syndromic lymphedema

ORPHA:89832

OBSOLETE: Syndromic macular dystrophy

ORPHA:519323

OBSOLETE: Syndromic myopia

ORPHA:98620

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

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

ORPHA:217335