distal arthrogryposis type 2B

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Summary

Literature (0)

DOID:0111599 - distal arthrogryposis type 2B

Disease Ontology Definition:A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

Synonyms: DA2B, Freeman-Sheldon syndrome variant, Sheldon-Hall syndrome

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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): distal arthrogryposis (is_a)