X-Linked Intellectual Developmental Disorder 109
Disease ID: disease_node_13599
Connections displayed (default: 10).
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| Dbxref | GARD:2378, MIM:309548, ORDO:100973 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | Fragile XE syndrome, fragile site on chromosome Xq28 |
| Doid Label | X-linked intellectual developmental disorder 109 |
| Doid Description | A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13599 |
| Doid Id | DOID_0080984 |
| Label | X-Linked Intellectual Developmental Disorder 109 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)