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DO Term : distal arthrogryposis type 5 [DOID:0111608] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.

synonyms:
DAIIB,
GARD:4047,
oculomelic amyoplasia,
DA5,
MESH:C537737,
distal arthrogryposis with ophthalmoplegia,
SNOMEDCT_US_2021_09_01:715217004,
distal arthrogryposis type IIB,
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,
OMIM:108145,
108145

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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