Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Disease ID: disease_node_18088
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| Dbxref | GARD:2078, MIM:225280, ORDO:1897 |
|---|---|
| Subclassof | DOID_0050737, DOID_2121 |
| Data Source | DOID |
| Synonyms | EEM syndrome, EEMS, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome |
| Doid Label | ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
| Doid Description | An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18088 |
| Doid Id | DOID_0111649 |
| Label | Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)