|
General Information
|
| Term |
syndromic X-linked intellectual disability Nascimento type |
ID (Ontology) |
DOID:0060820 (Human Disease) |
| Definition |
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. |
| Also Known As |
"mental retardation, X-linked syndromic, Nascimento-type" ; "X-linked intellectual disability-nail dystrophy-seizures syndrome" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
syndromic X-linked intellectual disability Nascimento type | 1 | 1 | for disease ribbon | syndromic X-linked intellectual disability Nascimento type | 1 | -- | model of | syndromic X-linked intellectual disability Nascimento type | 1 | -- |
|
Relationships