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Disease Ontology Browser
ataxia-telangiectasia-like disorder-2 (DOID:0081385)
Alliance: disease page
Synonyms: PCNA-related progressive neurodegenerative photosensitivity syndrome
Alt IDs: OMIM:615919, ORDO:438134
Definition: 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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory