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Summary Literature (0)
DOID:0050646 - distal arthrogryposis


Disease Ontology Definition:A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Synonyms: Arthrogryposis Multiplex Congenita, Freeman-Sheldon syndrome, Freeman-Sheldon syndrome variant, Sheldon-Hall syndrome

Xenbase Genes : tnni2, tnnt3, mybpc1, fbn2, myh3, ecel1, piezo2, myh8, tpm2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019942 - distal arthrogryposis

MIM:
MIM:108120 - ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
MIM:108145 - ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
MIM:108200 - ARTHROGRYPOSIS, DISTAL, TYPE 6; DA6
MIM:114300 - ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
MIM:121050 - CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
MIM:121070 - ARTHROGRYPOSIS, DISTAL, TYPE 2E
MIM:158300 - ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7
MIM:187370 - ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10
MIM:193700 - ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
MIM:601680 - ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1
MIM:609128 - ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4
MIM:614335 - ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B
MIM:615065 - ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): muscle tissue disease (is_a)