Syndromic X-Linked Intellectual Disability Shashi Type
Disease ID: disease_node_19237
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| Dbxref | ICD10CM:Q87.8, MIM:300238, ORDO:85286 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXS11, SMRXS, Shashi X-linked mental retardation syndrome, X-linked mental retardation Shashi type, mental retardation, X-linked, syndromic 11, Shashi type, syndromic X-linked intellectual disability type 11 |
| Doid Label | syndromic X-linked intellectual disability Shashi type |
| Doid Description | A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. |
| Disease Node Id | disease_node_19237 |
| Doid Id | DOID_0060826 |
| Label | Syndromic X-Linked Intellectual Disability Shashi Type |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)