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"

5 matching diseasesClear search ×

Achondrogenesis type 1A

Achondrogenesis, Houston-Harris type

ORPHA:93299

Achondrogenesis

ORPHA:932

Achondrogenesis type 1B

Achondrogenesis, Parenti-Fraccaro type

ORPHA:93298

Achondrogenesis type 2

Achondrogenesis, Langer-Saldino type

ORPHA:93296

Hypochondrogenesis

ORPHA:93297