About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
05/28/2024
MGI 6.13
The Jackson Laboratory