About   Help   FAQ
Disease Ontology Browser
hypomyelinating leukodystrophy 9 (DOID:0060791)
Alliance: disease page
Synonyms: HLD9; RARS-related autosomal recessive hypomyelinating leukodystrophy
Alt IDs: OMIM:616140, ICD10CM:E75.2, ORDO:438114
Definition: A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.


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
05/26/2020
MGI 6.15
The Jackson Laboratory