distal arthrogryposis type 1A

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Summary

Literature (0)

DOID:0111597 - distal arthrogryposis type 1A

Disease Ontology Definition:A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3.

Synonyms: DA1A

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tpm2

MIM:

MIM:108120 - ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

MIM:108120 - ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), distal arthrogryposis type 1 (is_a)