distal arthrogryposis type 2B1

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Summary

Literature (0)

DOID:0111600 - distal arthrogryposis type 2B1

Disease Ontology Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.

Synonyms: DA2B1,

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

: tnni2, tnnt3, myh3, tpm2

Other Model Organisms: AGR, 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 2B (is_a)