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- NCIT_C128114 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." @default.
- NCIT_C128114 NCIT_NHC0 "C128114" @default.
- NCIT_C128114 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C128114 NCIT_P108 "Hypercholesterolemia, Familial, 4" @default.
- NCIT_C128114 NCIT_P207 "C1863512" @default.
- NCIT_C128114 NCIT_P322 "Cellosaurus" @default.
- NCIT_C128114 normalizedInformationContent "100" @default.
- NCIT_C128114 referenceCount "1" @default.
- NCIT_C128114 hasExactSynonym "Autosomal Recessive Hypercholesterolemia" @default.
- NCIT_C128114 hasExactSynonym "FCHL4" @default.
- NCIT_C128114 hasExactSynonym "Hypercholesterolemia, Familial, 4" @default.
- NCIT_C128114 inSubset NCIT_C165258 @default.
- NCIT_C128114 inSubset NCIT_C192842 @default.
- NCIT_C128114 type Class @default.
- NCIT_C128114 isDefinedBy ncit.owl @default.
- NCIT_C128114 label "Hypercholesterolemia, Familial, 4" @default.
- NCIT_C128114 subClassOf NCIT_C128114 @default.
- NCIT_C128114 subClassOf NCIT_C2991 @default.
- NCIT_C128114 subClassOf NCIT_C3235 @default.
- NCIT_C128114 subClassOf NCIT_C34709 @default.
- NCIT_C128114 subClassOf NCIT_C53529 @default.
- NCIT_C128114 subClassOf NCIT_C53547 @default.
- NCIT_C128114 subClassOf NCIT_C7057 @default.