distal arthrogryposis type 1B

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Summary

Literature (0)

DOID:0111598 - distal arthrogryposis type 1B

Disease Ontology Definition:A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.

Synonyms: DA1B

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

: mybpc1

MIM:

MIM:614335 - ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B

MIM:614335 - ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B

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)