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:
expandfamilial cardiomyopathy (MONDO:0005217)
Parent Node:
expandhypertrophic cardiomyopathy (MONDO:0005045)
..Starting node
..expandfamilial hypertrophic cardiomyopathy ()

       Child Nodes:
........expandcardiomyopathy, familial hypertrophic 27 ()
........expanddilated cardiomyopathy 1C ()
........expandfamilial syndrome associated with hypertrophic cardiomyopathy ()
........expandfatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy ()
........expandglycogen storage disease due to muscle and heart glycogen synthase deficiency ()
........expandglycogen storage disease III ()
........expandhypertrophic cardiomyopathy 1 ()
........expandhypertrophic cardiomyopathy 10 ()
........expandhypertrophic cardiomyopathy 11 ()
........expandhypertrophic cardiomyopathy 12 ()
........expandhypertrophic cardiomyopathy 13 ()
........expandhypertrophic cardiomyopathy 14 ()
........expandhypertrophic cardiomyopathy 15 ()
........expandhypertrophic cardiomyopathy 16 ()
........expandhypertrophic cardiomyopathy 17 ()
........expandhypertrophic cardiomyopathy 18 ()
........expandhypertrophic cardiomyopathy 19 ()
........expandhypertrophic cardiomyopathy 2 ()
........expandhypertrophic cardiomyopathy 20 ()
........expandhypertrophic cardiomyopathy 21 ()
........expandhypertrophic cardiomyopathy 25 ()
........expandhypertrophic cardiomyopathy 26 ()
........expandhypertrophic cardiomyopathy 3 ()
........expandhypertrophic cardiomyopathy 4 ()
........expandhypertrophic cardiomyopathy 6 ()
........expandhypertrophic cardiomyopathy 7 ()
........expandhypertrophic cardiomyopathy 8 ()
........expandhypertrophic cardiomyopathy 9 ()
........expandlysosomal disease with hypertrophic cardiomyopathy ()
........expandmitochondrial disease with hypertrophic cardiomyopathy ()



 Sister Nodes: 
..expanddilated cardiomyopathy 1KK ()
..expandfamilial hypertrophic cardiomyopathy ()
..expandnon-familial hypertrophic cardiomyopathy ()
..expandrare familial disorder with hypertrophic cardiomyopathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:24573
Name:familial hypertrophic cardiomyopathy
Definition:Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.
Alternative IDs:
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Synonyms:cardiomyopathy, familial hypertrophic; familial hypertrophic cardiomyopathy; hereditary hypertrophic cardiomyopathy; hypertrophic familial cardiomyopathy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal