General Information of Disease (ID: DISHWWRO)

Disease Name Mild Canavan disease
Synonyms juvenile Canavan disease
Definition Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
Disease Hierarchy
DIS7UPG8: Canavan disease
DISHWWRO: Mild Canavan disease
Disease Identifiers
MONDO ID
MONDO_0017831
UMLS CUI
C4017127
MedGen ID
865564
Orphanet ID
314918

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ASPA TT6TLZP Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ASPA OTR2MWS4 Supportive Autosomal recessive [1]
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References

1 Canavan Disease. 1999 Sep 16 [updated 2023 Dec 21]. 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.