Syndromic X-Linked Intellectual Disability Nascimento Type
Disease ID: disease_node_19241
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q87.8, MIM:300860, ORDO:163956 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | X-linked intellectual disability-nail dystrophy-seizures syndrome, mental retardation, X-linked syndromic, Nascimento-type |
| Doid Label | syndromic X-linked intellectual disability Nascimento type |
| Doid Description | A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. |
| Disease Node Id | disease_node_19241 |
| Doid Id | DOID_0060820 |
| Label | Syndromic X-Linked Intellectual Disability Nascimento Type |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)