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"

37 matching diseasesClear search ×

OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

OBSOLETE: Fitzsimmons-Guilbert syndrome

ORPHA:2823

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324982

OBSOLETE: Amniotic bands

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

ORPHA:1034

OBSOLETE: AymÚ-Gripp syndrome

ORPHA:477668

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

ORPHA:1250

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

ORPHA:1339

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

ORPHA:553

OBSOLETE: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

ORPHA:1562

OBSOLETE: Deafness-white hair-contractures-papillomas syndrome

OBSOLETE: Davenport-Donlan syndrome

ORPHA:3215

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

ORPHA:2129

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: Lown-Ganong-Levine syndrome

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

ORPHA:844

OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome

OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome

ORPHA:2458

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: 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 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: 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: 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: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

ORPHA:3362

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

ORPHA:306597

Paraplegia-intellectual disability-hyperkeratosis syndrome

Fitzsimmons-McLachlan-Gilbert syndrome

ORPHA:2824

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

ORPHA:2820