Ectodermal Dysplasia 14
Disease ID: disease_node_18079
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| Dbxref | MIM:618180 |
|---|---|
| Subclassof | DOID_0050737, DOID_2121 |
| Data Source | DOID |
| Synonyms | ECTN14, ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis |
| Doid Label | ectodermal dysplasia 14 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18079 |
| Doid Id | DOID_0111662 |
| Label | Ectodermal Dysplasia 14 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)