MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
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Leigh syndrome (MONDO:0009723)
..Starting node
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Leigh syndrome with leukodystrophy ()

       Child Nodes:
........expandmitochondrial short-chain Enoyl-Coa hydratase 1 deficiency ()  LSDB  L: 00529;



 Sister Nodes: 
..expandLeigh syndrome with cardiomyopathy ()
..expandLeigh syndrome with leukodystrophy ()
..expandmaternally-inherited Leigh syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16815
Name:Leigh syndrome with leukodystrophy
Definition:
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Synonyms:infantile subacute necrotizing encephalopathy with leukodystrophy; Leigh disease with leukodystrophy
Slim Mappings:
Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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