ectodermal dysplasia 13

Summary

DOID:0111650 - ectodermal dysplasia 13

Disease Ontology Definition:An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.

Synonyms: ECTD13, ectodermal dysplasia 13, hair/tooth type

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

: kremen1

MIM:

MIM:617392 - ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

MIM:617392 - ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), ectodermal dysplasia (is_a)