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- NCIT_C105929 IAO_0000115 "Human EDNRB wild-type allele is located in the vicinity of 13q22 and is approximately 24 kb in length. This allele, which encodes endothelin receptor type B protein, plays a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. Mutations in this gene are associated with ABCD syndrome, Waardenburg syndrome, type 4A, and susceptibility to Hirschsprung disease 2." @default.
- NCIT_C105929 NCIT_NHC0 "C105929" @default.
- NCIT_C105929 NCIT_P100 "131244" @default.
- NCIT_C105929 NCIT_P102 "NM_000115" @default.
- NCIT_C105929 NCIT_P106 "Gene or Genome" @default.
- NCIT_C105929 NCIT_P107 "EDNRB wt Allele" @default.
- NCIT_C105929 NCIT_P108 "EDNRB wt Allele" @default.
- NCIT_C105929 NCIT_P207 "C3811132" @default.
- NCIT_C105929 NCIT_P321 "1910" @default.
- NCIT_C105929 NCIT_P322 "CTRP" @default.
- NCIT_C105929 NCIT_R130 NCIT_C17132 @default.
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- NCIT_C105929 NCIT_R41 NCIT_C25796 @default.
- NCIT_C105929 NCIT_R41 NCIT_C79740 @default.
- NCIT_C105929 normalizedInformationContent "100" @default.
- NCIT_C105929 referenceCount "1" @default.
- NCIT_C105929 hasExactSynonym "ABCDS" @default.
- NCIT_C105929 hasExactSynonym "EDNRB wt Allele" @default.
- NCIT_C105929 hasExactSynonym "ET-B" @default.
- NCIT_C105929 hasExactSynonym "ET-BR" @default.
- NCIT_C105929 hasExactSynonym "ETB" @default.
- NCIT_C105929 hasExactSynonym "ETB1" @default.
- NCIT_C105929 hasExactSynonym "ETBR" @default.
- NCIT_C105929 hasExactSynonym "ETRB" @default.
- NCIT_C105929 hasExactSynonym "Endothelin Receptor Type B wt Allele" @default.
- NCIT_C105929 hasExactSynonym "HSCR" @default.
- NCIT_C105929 hasExactSynonym "HSCR2" @default.
- NCIT_C105929 hasExactSynonym "WS4A" @default.
- NCIT_C105929 inSubset NCIT_C116977 @default.
- NCIT_C105929 inSubset NCIT_C142799 @default.
- NCIT_C105929 inSubset NCIT_C142800 @default.
- NCIT_C105929 type Class @default.
- NCIT_C105929 isDefinedBy ncit.owl @default.
- NCIT_C105929 label "EDNRB wt Allele" @default.
- NCIT_C105929 subClassOf B2affa3b81502527c9bec46170b1410db @default.
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- NCIT_C105929 subClassOf NCIT_C20103 @default.
- NCIT_C105929 subClassOf NCIT_C20923 @default.
- NCIT_C105929 subClassOf NCIT_C21295 @default.