Ataxia-Telangiectasia-Like Disorder-2
Disease ID: disease_node_16015
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| Dbxref | MIM:615919, ORDO:438134 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | PCNA-related progressive neurodegenerative photosensitivity syndrome |
| Doid Label | ataxia-telangiectasia-like disorder-2 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. |
| Disease Node Id | disease_node_16015 |
| Doid Id | DOID_0081385 |
| Label | Ataxia-Telangiectasia-Like Disorder-2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)