| Metadata | |
|---|---|
| ID | DOID:0111662 |
| Name | ectodermal dysplasia 14 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/27736875 |
| Xrefs | |
| Synonyms |
ECTN14 [EXACT] ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |