| Metadata | |
|---|---|
| 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 |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |