About   Help   FAQ
Disease Ontology Browser
hypomyelinating leukodystrophy 5 (DOID:0060793)
Alliance: disease page
Synonyms: HLD5; hypomyelination-congenital cataract syndrome
Alt IDs: OMIM:610532, ICD10CM:G37.8, ORDO:85163
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.

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
11/12/2024
MGI 6.24 		The Jackson Laboratory