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"

10 matching diseasesClear search ×

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

ORPHA:1234

Antecubital pterygium syndrome

ORPHA:2987

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

ORPHA:1300

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

ORPHA:2990

Lethal Larsen-like syndrome

ORPHA:2371

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

ORPHA:33108

Multiple pterygium syndrome

ORPHA:294060

Multiple pterygium syndrome, Aslan type

ORPHA:79446

Popliteal pterygium syndrome

ORPHA:294963

X-linked lethal multiple pterygium syndrome

ORPHA:79447