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Metadata
ID DOID:0111607
Name distal arthrogryposis type 3
Definition A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21.
https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/24726473
Xrefs

GARD:2553

MESH:C537288

OMIM:114300

ORDO:376

UMLS_CUI:C0220666

Synonyms

camptodactyly-cleft palate-clubfoot syndrome [EXACT]

DA3 [EXACT]

distal arthrogryposis multiplex congenita type IIA [EXACT]

Gordon syndrome [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a distal arthrogryposis

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