X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Disease ID: disease_node_19236
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| Dbxref | ICD10CM:F71.1, MIM:300055, ORDO:3077 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | Lindsay-Burn syndrome, MRXS13, PPM-X, X-linked mental retardation 79, X-linked mental retardation with spasticity, mental retardation with psychosis, pyramidal signs, and macroorchidism, mental retardation, X-linked, syndromic 13 |
| Doid Label | X-linked intellectual disability-psychosis-macroorchidism syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. |
| Disease Node Id | disease_node_19236 |
| Doid Id | DOID_0060827 |
| Label | X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)