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- NCIT_C133730 IAO_0000115 "An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by mental retardation without structural brain abnormalities and limb-girdle muscular dystrophy." @default.
- NCIT_C133730 NCIT_NHC0 "C133730" @default.
- NCIT_C133730 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C133730 NCIT_P108 "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1" @default.
- NCIT_C133730 NCIT_P207 "C1836373" @default.
- NCIT_C133730 NCIT_P322 "Cellosaurus" @default.
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- NCIT_C133730 NCIT_R101 NCIT_C13040 @default.
- NCIT_C133730 NCIT_R101 NCIT_C32221 @default.
- NCIT_C133730 NCIT_R101 NCIT_C33968 @default.
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- NCIT_C133730 NCIT_R103 NCIT_C12801 @default.
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- NCIT_C133730 NCIT_R135 NCIT_C12219 @default.
- NCIT_C133730 NCIT_R135 NCIT_C12366 @default.
- NCIT_C133730 NCIT_R135 NCIT_C25769 @default.
- NCIT_C133730 NCIT_R135 NCIT_C32221 @default.
- NCIT_C133730 NCIT_R135 NCIT_C34076 @default.
- NCIT_C133730 normalizedInformationContent "100" @default.
- NCIT_C133730 referenceCount "1" @default.
- NCIT_C133730 hasExactSynonym "LGMD2K" @default.
- NCIT_C133730 hasExactSynonym "Limb-Girdle Muscular Dystrophy Type 2K" @default.
- NCIT_C133730 hasExactSynonym "MDDGC1" @default.
- NCIT_C133730 hasExactSynonym "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1" @default.
- NCIT_C133730 inSubset NCIT_C165258 @default.
- NCIT_C133730 inSubset NCIT_C192842 @default.
- NCIT_C133730 type Class @default.
- NCIT_C133730 isDefinedBy ncit.owl @default.
- NCIT_C133730 label "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1" @default.
- NCIT_C133730 subClassOf NCIT_C101216 @default.
- NCIT_C133730 subClassOf NCIT_C107377 @default.
- NCIT_C133730 subClassOf NCIT_C118317 @default.
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- NCIT_C133730 subClassOf NCIT_C4873 @default.
- NCIT_C133730 subClassOf NCIT_C53529 @default.
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- NCIT_C133730 subClassOf NCIT_C53543 @default.
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- NCIT_C133730 subClassOf NCIT_C7057 @default.
- NCIT_C133730 subClassOf NCIT_C84828 @default.
- NCIT_C133730 subClassOf NCIT_C84910 @default.