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"

3 matching diseasesClear search ×

Thanatophoric dysplasia type 2

Cloverleaf skull-micromelic bone dysplasia syndrome · TD2

ORPHA:93274

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

ORPHA:597743

Thanatophoric dysplasia

TD

ORPHA:2655