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Metadata
ID DOID:0080110
Name multiple pterygium syndrome
Definition A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/, https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome, https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/25957469
Xrefs

MESH:C537377

OMIM:178110

OMIM:253290

OMIM:265000

OMIM:312150

OMIM:PS178110

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a monogenic disease

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