Details of Disease

General Information of Disease (ID: DIS3M7XW)

Disease Name Pelizaeus-Merzbacher disease in female carriers
Definition Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
Disease Hierarchy
DIS1ODJO: Pelizeaus-Merzbacher spectrum disorder
DIS3M7XW: Pelizaeus-Merzbacher disease in female carriers
Disease Identifiers
MONDO ID
MONDO_0017224
UMLS CUI
C5438815
MedGen ID
1753109
Orphanet ID
280229
SNOMED CT ID
1003881009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLP1 OT8CM9CX Supportive X-linked [1]
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References

1 PLP1 Disorders. 1999 Jun 15 [updated 2019 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.