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Summary Literature (0)
DOID:3210 - Pelizaeus-Merzbacher disease

Disease Ontology 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.

Synonyms: HLD1, Leukodystrophy, sudanophilic, PMD, Pelizaeus Merzbacher brain sclerosis, Pelizaeus-Merzbacher brain sclerosis, diffuse familial brain sclerosis, hypomyelinating leukodystrophy 1, sudanophilic leukodystrophy, Paelizeus-Merzbacher type

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : plp1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): hypomyelinating leukodystrophy (is_a)

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Version: 4.15.0
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