Term Name: | ectodermal dysplasia 14 |
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Synonyms: | ECTN14, ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis |
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. |
Ontology: | Human Disease [DOID:0111662] ( DOID:0111662 ) |