Syndromic X-Linked Intellectual Disability Turner Type
Disease ID: disease_node_13612
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| Dbxref | ICD10CM:Q87.8, MIM:309590, ORDO:3056, ORDO:85328 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | Brooks-Wisniewski-Brown syndrome, MRXST, X-linked intellectual disability, Brooks type, mental retardation and macrocephaly syndrome, mental retardation, X-linked syndromic, Turner type |
| Doid Label | syndromic X-linked intellectual disability Turner type |
| Doid Description | A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. |
| Disease Node Id | disease_node_13612 |
| Doid Id | DOID_0060811 |
| Label | Syndromic X-Linked Intellectual Disability Turner Type |
| Doid Alternate Ids | DOID_0060829 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)