| Metadata | |
|---|---|
| ID | DOID:0111661 |
| Name | ectodermal dysplasia 8 |
| Definition | An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. https://www.ncbi.nlm.nih.gov/pubmed/856958, https://www.ncbi.nlm.nih.gov/pubmed/18184143 |
| Xrefs |
SNOMEDCT_US_2023_03_01:239020008 |
| Subsets |
DO_rare_slim |
| Synonyms |
ECTD8 [EXACT] ectodermal dysplasia 8, hair/tooth/nail type [EXACT] Fried's tooth and nail syndrome [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |