Nescav Syndrome
Disease ID: disease_node_16514
Connections displayed (default: 10).
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| Dbxref | MIM:614255, NCI:C133742, UMLS_CUI:C3280283 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | MRD9, NESCAVS, autosomal dominant intellectual disability 9, autosomal dominant mental retardation 9, autosomal dominant non-syndromic intellectual disability 9, neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment |
| Doid Label | NESCAV syndrome |
| Doid Description | An autosomal domit intellectual developmental disorder that has_material_basis_in an autosomal domit mutation of the KIF1A gene on chromosome 2q37.3. |
| Disease Node Id | disease_node_16514 |
| Doid Id | DOID_0070039 |
| Label | Nescav Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)