Metadata | |
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ID | DOID:0111650 |
Name | ectodermal dysplasia 13 |
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. https://www.ncbi.nlm.nih.gov/pubmed/27049303 |
Xrefs | |
Synonyms |
ECTD13 [EXACT] ectodermal dysplasia 13, hair/tooth type [EXACT] |
Parent Relationships |
is_a ectodermal dysplasia |