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"

9 matching diseasesClear search ×

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

ORPHA:2990

Antecubital pterygium syndrome

ORPHA:2987

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

ORPHA:65743

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

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

ORPHA:2215

Popliteal pterygium syndrome

ORPHA:294963

X-linked lethal multiple pterygium syndrome

ORPHA:79447