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- NCIT_C129022 IAO_0000115 "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." @default.
- NCIT_C129022 NCIT_NHC0 "C129022" @default.
- NCIT_C129022 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129022 NCIT_P108 "Deafness, Autosomal Recessive 1A" @default.
- NCIT_C129022 NCIT_P207 "C2673759" @default.
- NCIT_C129022 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129022 NCIT_R100 NCIT_C12219 @default.
- NCIT_C129022 NCIT_R100 NCIT_C12394 @default.
- NCIT_C129022 NCIT_R100 NCIT_C12418 @default.
- NCIT_C129022 NCIT_R100 NCIT_C12680 @default.
- NCIT_C129022 NCIT_R100 NCIT_C13018 @default.
- NCIT_C129022 NCIT_R100 NCIT_C33224 @default.
- NCIT_C129022 NCIT_R176 NCIT_C126999 @default.
- NCIT_C129022 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129022 NCIT_R176 NCIT_C21295 @default.
- NCIT_C129022 NCIT_R176 NCIT_C28533 @default.
- NCIT_C129022 normalizedInformationContent "100" @default.
- NCIT_C129022 referenceCount "1" @default.
- NCIT_C129022 hasExactSynonym "DFNB1A" @default.
- NCIT_C129022 hasExactSynonym "Deafness, Autosomal Recessive 1A" @default.
- NCIT_C129022 inSubset NCIT_C165258 @default.
- NCIT_C129022 inSubset NCIT_C192842 @default.
- NCIT_C129022 type Class @default.
- NCIT_C129022 isDefinedBy ncit.owl @default.
- NCIT_C129022 label "Deafness, Autosomal Recessive 1A" @default.
- NCIT_C129022 subClassOf B4f7328f31b830a8e8c65f19e25ff945c @default.
- NCIT_C129022 subClassOf Bcf459095027f95741f6120d136a4e944 @default.
- NCIT_C129022 subClassOf NCIT_C118420 @default.
- NCIT_C129022 subClassOf NCIT_C129022 @default.
- NCIT_C129022 subClassOf NCIT_C26757 @default.
- NCIT_C129022 subClassOf NCIT_C27551 @default.
- NCIT_C129022 subClassOf NCIT_C27571 @default.
- NCIT_C129022 subClassOf NCIT_C27644 @default.
- NCIT_C129022 subClassOf NCIT_C27652 @default.
- NCIT_C129022 subClassOf NCIT_C27663 @default.
- NCIT_C129022 subClassOf NCIT_C2991 @default.
- NCIT_C129022 subClassOf NCIT_C3078 @default.
- NCIT_C129022 subClassOf NCIT_C35731 @default.
- NCIT_C129022 subClassOf NCIT_C4873 @default.
- NCIT_C129022 subClassOf NCIT_C50576 @default.
- NCIT_C129022 subClassOf NCIT_C53529 @default.
- NCIT_C129022 subClassOf NCIT_C53531 @default.
- NCIT_C129022 subClassOf NCIT_C53543 @default.
- NCIT_C129022 subClassOf NCIT_C53547 @default.
- NCIT_C129022 subClassOf NCIT_C7057 @default.
- NCIT_C129022 subClassOf NCIT_C84650 @default.