Ectodermal Dysplasia 8
Disease ID: disease_node_18080
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| Dbxref | MIM:602401, ORDO:99672, SNOMEDCT_US_2023_03_01:239020008, UMLS_CUI:C0406715 |
|---|---|
| Subclassof | DOID_0050737, DOID_2121 |
| Data Source | DOID |
| Synonyms | ECTD8, Fried's tooth and nail syndrome, ectodermal dysplasia 8, hair/tooth/nail type |
| Doid Label | ectodermal dysplasia 8 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18080 |
| Doid Id | DOID_0111661 |
| Label | Ectodermal Dysplasia 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)