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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 : tnni2, tnnt3, myh3, tpm2


MIM:
MIM:601680 - ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1

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 2B (is_a)