Syndromic X-Linked Intellectual Disability Claes-Jensen Type
Disease ID: disease_node_13614
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q87.8, MIM:300534, ORDO:85279 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXSCJ, MRXSJ, mental retardation, X-linked, syndromic, Claes-Jensen type, syndromic X-linked intellectual disability due to JARID1C mutation, syndromic X-linked mental retardation JARID1C-related |
| Doid Label | syndromic X-linked intellectual disability Claes-Jensen type |
| Doid Description | A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13614 |
| Doid Id | DOID_0060809 |
| Label | Syndromic X-Linked Intellectual Disability Claes-Jensen Type |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)