Ataxia-Telangiectasia-Like Disorder-1
Disease ID: disease_node_16016
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| Dbxref | MIM:604391, ORDO:251347 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Doid Label | ataxia-telangiectasia-like disorder-1 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. |
| Disease Node Id | disease_node_16016 |
| Doid Id | DOID_0081384 |
| Label | Ataxia-Telangiectasia-Like Disorder-1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)