Non-Syndromic X-Linked Intellectual Disability 30
Disease ID: disease_node_16324
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:300558 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050776 |
| Data Source | DOID |
| Synonyms | MRX30, MRX47, X-linked mental retardation 30, X-linked mental retardation 30/47, X-linked mental retardation 47 |
| Doid Label | non-syndromic X-linked intellectual disability 30 |
| Doid Description | A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16324 |
| Doid Id | DOID_0112051 |
| Label | Non-Syndromic X-Linked Intellectual Disability 30 |
- Outgoing r'ship
SUBCLASS_OFto/from Non-Syndromic X-Linked Intellectual Disability(ID:disease_node_16316) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)