Ehlers-Danlos syndrome arthrochalasia type 1

Summary

DOID:0080727 - Ehlers-Danlos syndrome arthrochalasia type 1

Disease Ontology Definition:An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.

Synonyms:

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

: col1a2, col1a1

MIM:

MIM:130060 - EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1

MIM:130060 - EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1

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), Ehlers-Danlos syndrome (is_a)