About   Help   FAQ
Disease Ontology Browser
hypomyelinating leukodystrophy 2 (DOID:0060787)
Alliance: disease page
Synonyms: HLD2; Pelizaeus-Merzbacher-like disease 1; Pelizaeus-Merzbacher-like disease due to GJC2 mutation; PMLD1
Alt IDs: OMIM:608804, ICD10CM:E75.2, ORDO:280282
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.

Disease References using Mouse Models (2)

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 6.17
The Jackson Laboratory