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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)
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last database update
02/20/2024
MGI 6.23
The Jackson Laboratory