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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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory