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,

Echinobase Genes :


OMIM:

MIM:312080 - pelizaeus-merzbacher disease; pmd

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee