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Disease Ontology Browser
Pelizaeus-Merzbacher disease (DOID:3210)
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, ICD10CM:E75.2, 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory