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- NCIT_C84679 IAO_0000115 "A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts." @default.
- NCIT_C84679 NCIT_NHC0 "C84679" @default.
- NCIT_C84679 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84679 NCIT_P108 "Dystrophia Myotonica 1" @default.
- NCIT_C84679 NCIT_P207 "C3250443" @default.
- NCIT_C84679 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84679 NCIT_P322 "NICHD" @default.
- NCIT_C84679 NCIT_P325 "An autosomal dominant condition caused by heterozygous trinucleotide repeat expansion(s) (CTG)n in the 3-prime untranslated region of the DMPK gene, encoding myotonin-protein kinase. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes." @default.
- NCIT_C84679 NCIT_R100 NCIT_C12219 @default.
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- NCIT_C84679 NCIT_R135 NCIT_C12219 @default.
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- NCIT_C84679 normalizedInformationContent "100" @default.
- NCIT_C84679 referenceCount "1" @default.
- NCIT_C84679 hasExactSynonym "Dystrophia Myotonica 1" @default.
- NCIT_C84679 hasExactSynonym "Myotonic Dystrophy 1" @default.
- NCIT_C84679 hasExactSynonym "Steinert Disease" @default.
- NCIT_C84679 hasExactSynonym "Steinert Myotonic Dystrophy Syndrome" @default.
- NCIT_C84679 hasExactSynonym "Steinert Syndrome" @default.
- NCIT_C84679 inSubset NCIT_C118467 @default.
- NCIT_C84679 inSubset NCIT_C165258 @default.
- NCIT_C84679 inSubset NCIT_C192842 @default.
- NCIT_C84679 inSubset NCIT_C90259 @default.
- NCIT_C84679 type Class @default.
- NCIT_C84679 isDefinedBy ncit.owl @default.
- NCIT_C84679 label "Dystrophia Myotonica 1" @default.
- NCIT_C84679 subClassOf NCIT_C101216 @default.
- NCIT_C84679 subClassOf NCIT_C107377 @default.
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- NCIT_C84679 subClassOf NCIT_C84914 @default.