Autosomal Domit Intellectual Developmental Disorder 55
Disease ID: disease_node_16526
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| Dbxref | MIM:617831 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | autosomal dominant intellectual developmental disorder-55 with seizures, autosomal dominant mental retardation 55 |
| Doid Label | autosomal domit intellectual developmental disorder 55 |
| Doid Description | An autosomal domit intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16526 |
| Doid Id | DOID_0080227 |
| Label | Autosomal Domit Intellectual Developmental Disorder 55 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)