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"

57 matching diseasesClear search ×

OBSOLETE: Platyspondylic lethal chondrodysplasia

OBSOLETE: Akaba-Hayasaka syndrome

ORPHA:1417

OBSOLETE: Ramsay Hunt syndrome type II

ORPHA:412220

OBSOLETE: Rare non-syndromic cataract

ORPHA:217049

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

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

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088