About   Help   FAQ
Disease Ontology Browser
Fazio-Londe disease (DOID:0080632)
Alliance: disease page
Synonyms: riboflavin transporter deficiency neuronopathy
Alt IDs: OMIM:211500
Definition: A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.

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 & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.20
The Jackson Laboratory