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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:
Echinobase Genes :
MIM:130060 - ehlers-danlos syndrome, type vii, autosomal dominant |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee