Tatton-Brown-Rahman Syndrome
Disease ID: disease_node_16361
Connections displayed (default: 10).
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| Dbxref | MIM:615879, ORDO:404443 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050888 |
| Data Source | DOID |
| Synonyms | DNMT3A overgrowth syndrome, DOS, TBRS, Tatton-Brown-Rahman overgrowth syndrome |
| Doid Label | Tatton-Brown-Rahman syndrome |
| Doid Description | A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. |
| Has Phenotype | HP_0012758 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16361 |
| Doid Id | DOID_0112339 |
| Label | Tatton-Brown-Rahman Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)