Ectodermal Dysplasia 13
Disease ID: disease_node_18087
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| Dbxref | MIM:617392 |
|---|---|
| Subclassof | DOID_0050737, DOID_2121 |
| Data Source | DOID |
| Synonyms | ECTD13, ectodermal dysplasia 13, hair/tooth type |
| Doid Label | ectodermal dysplasia 13 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18087 |
| Doid Id | DOID_0111650 |
| Label | Ectodermal Dysplasia 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)