MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandmitochondrial membrane transport disorder (MONDO:0016800)
..Starting node
..expandmitochondrial substrate carrier disorder ()

       Child Nodes:
........expandcardiomyopathy-hypotonia-lactic acidosis syndrome ()  LSDB  L: 00040;
........expandearly myoclonic encephalopathy ()
........expandepileptic encephalopathy with global cerebral demyelination ()  LSDB  L: 00107;
........expandneonatal severe cardiopulmonary failure due to mitochondrial methylation defect ()  LSDB  L: 00520;
........expandSengers syndrome ()  LSDB  L: 00403;
........expandsideroblastic anemia 3 ()



 Sister Nodes: 
..expandmitochondrial protein import disorder ()
..expandmitochondrial substrate carrier disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16801
Name:mitochondrial substrate carrier disorder
Definition:
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal