About: hypertrophic cardiomyopathy 4     Goto   Sponge   NotDistinct   Permalink

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hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11

AttributesValues
rdf:type
description
  • Krankheit (de)
  • مرض يصيب الإنسان (ar)
  • хвороба (uk)
  • hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11 (en)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0007268
Disease Ontology ID
  • DOID:0110310
rdfs:label
  • hypertrophic cardiomyopathy 4 (en)
skos:prefLabel
  • hypertrophic cardiomyopathy 4 (en)
name
  • hypertrophic cardiomyopathy 4 (en)
instance of
instance of
subclass of
subclass of
UniProt disease ID
Orphanet ID
genetic association
OMIM ID
UniProt disease ID
  • DI-00236
Orphanet ID
  • 155
genetic association
OMIM ID
  • 115197
skos:altLabel
  • CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 (en)
  • CMH4 (en)
  • Cardiomyopathy, Familial Hypertrophic, type 4 (en)
  • cardiomyopathy, familial hypertrophic, 4 (en)
  • familial hypertrophic cardiomyopathy type 4 (en)
  • hypertrophic cardiomyopathy type 4 (en)
  • Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility to (en)
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
NCI Thesaurus ID
  • C133725
UMLS CUI
  • C1861862
  • C2751427
MeSH descriptor ID
  • C566169
on focus list of Wikimedia project
is about of
is genetic association of
is genetic association of
is established from medical condition of
is established from medical condition of
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