Ehlers-Danlos syndrome arthrochalasia type 2

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Summary

Literature (0)

DOID:0080728 - Ehlers-Danlos syndrome arthrochalasia type 2

Disease Ontology Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.

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

MIM:

MIM:617821 - EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2

MIM:617821 - EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2

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)