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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

Xenbase Genes : plp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010714 - Pelizaeus-Merzbacher disease

OMIM:
OMIM:312080 - PELIZAEUS-MERZBACHER DISEASE; PMD

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hypomyelinating leukodystrophy (is_a)