Term Name: | ectodermal dysplasia 13 |
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Synonyms: | ECTD13, ectodermal dysplasia 13, hair/tooth type |
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. |
Ontology: | Human Disease [DOID:0111650] ( DOID:0111650 ) |