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DOID:0111605 - distal arthrogryposis type 2A
Disease Ontology Definition:A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
Synonyms: DA2A, distal arthrogryposis type 2A (Freeman-Sheldon),
Echinobase Genes :
MIM:193700 - arthrogryposis, distal, type 2a; da2a |
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)