Details of Disease

General Information of Disease (ID: DISMKMY7)

Disease Name Pelizaeus-Merzbacher disease, classic form
Synonyms classic PMD
Definition The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
Disease Hierarchy
DIS1ODJO: Pelizeaus-Merzbacher spectrum disorder
DISMKMY7: Pelizaeus-Merzbacher disease, classic form
Disease Identifiers
MONDO ID
MONDO_0017222
MESH ID
D020371
UMLS CUI
C0751916
MedGen ID
155959
Orphanet ID
280219
SNOMED CT ID
87607002

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]
------------------------------------------------------------------------------------

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.