Ehlers-Danlos syndrome periodontal type 2

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Summary

Literature (0)

DOID:0080987 - Ehlers-Danlos syndrome periodontal type 2

Disease Ontology Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.

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

: c1s

MIM:

MIM:617174 - EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

MIM:617174 - EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

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)