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"

26 matching diseasesClear search ×

OBSOLETE: Ichthyosis-cheek-eyebrow syndrome

OBSOLETE: Sidransky-Feinstein-Goodman syndrome

ORPHA:2267

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

ORPHA:65798

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: Dacryocystitis-osteopoikilosis syndrome

OBSOLETE: Gunal-Seber-Basaran syndrome

ORPHA:1562

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-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

ORPHA:3050

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

ORPHA:3313

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: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

ORPHA:2474

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: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

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