Details of Disease

General Information of Disease (ID: DISOSUNU)

Disease Name Pelizaeus-Merzbacher disease, transitional form
Synonyms transitional PMD
Definition The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.
Disease Hierarchy
DIS1ODJO: Pelizeaus-Merzbacher spectrum disorder
DISOSUNU: Pelizaeus-Merzbacher disease, transitional form
Disease Identifiers
MONDO ID
MONDO_0017223
MESH ID
D020371
UMLS CUI
C0751917
MedGen ID
199764
Orphanet ID
280224

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.