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Metadata
ID DOID:3210
Name Pelizaeus-Merzbacher disease
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.
https://www.ncbi.nlm.nih.gov/pubmed/15627202, https://www.ncbi.nlm.nih.gov/pubmed/2773936, https://www.ncbi.nlm.nih.gov/pubmed/3476455
Xrefs

CSP2005:1849-5479

GARD:4265

MESH:D020371

MTHICD9_2006:330.0

NCI:C75487

OMIM:312080

ORDO:702

SNOMEDCT_US_2018_03_01:64855000

UMLS_CUI:C0205711

Subsets

NCIthesaurus

Synonyms

diffuse familial brain sclerosis [EXACT]

HLD1 [EXACT]

hypomyelinating leukodystrophy 1 [EXACT]

Leukodystrophy, sudanophilic [EXACT]

Pelizaeus Merzbacher brain sclerosis [EXACT]

Pelizaeus-Merzbacher brain sclerosis [EXACT]

PMD [EXACT]

sudanophilic leukodystrophy, Paelizeus-Merzbacher type [EXACT]

Parent Relationships

is_a hypomyelinating leukodystrophy

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