ectodermal dysplasia 14 Disease Ontology Browser

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Disease Ontology Browser

ectodermal dysplasia 14 (DOID:0111662)
Alliance: disease page
Synonyms: ECTN14; ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Alt IDs: OMIM:618180
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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