About   Help   FAQ
Disease Ontology Browser
Pelizaeus-Merzbacher disease (DOID:3210)
Alliance: disease page
Synonyms: diffuse familial brain sclerosis; HLD1; hypomyelinating leukodystrophy 1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; PMD; sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Alt IDs: OMIM:312080, MESH:D020371, NCI:C75487, ORDO:702, UMLS_CUI:C0205711
Definition: A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.

Disease References using Mouse Models (10)
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