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DO Term : distal arthrogryposis type 3 [DOID:0111607] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.

synonyms:
OMIM:114300,
camptodactyly-cleft palate-clubfoot syndrome,
SNOMEDCT_US_2021_09_01:897570002,
114300,
GARD:2553,
distal arthrogryposis multiplex congenita type IIA,
DA3,
ORDO:376,
MESH:C537288,
Gordon syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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