ectodermal dysplasia 14

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Summary

Literature (0)

DOID:0111662 - ectodermal dysplasia 14

Disease Ontology Definition:An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.

Synonyms: ECTN14, ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis,

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

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)