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- NCIT_C126291 IAO_0000115 "A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1." @default.
- NCIT_C126291 NCIT_A13 NCIT_C18173 @default.
- NCIT_C126291 NCIT_NHC0 "C126291" @default.
- NCIT_C126291 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126291 NCIT_P108 "TERT Deficiency" @default.
- NCIT_C126291 NCIT_P208 "CL504864" @default.
- NCIT_C126291 NCIT_R176 NCIT_C16612 @default.
- NCIT_C126291 NCIT_R176 NCIT_C18173 @default.
- NCIT_C126291 NCIT_R176 NCIT_C20338 @default.
- NCIT_C126291 normalizedInformationContent "100" @default.
- NCIT_C126291 referenceCount "1" @default.
- NCIT_C126291 hasExactSynonym "TERT Deficiency" @default.
- NCIT_C126291 type Class @default.
- NCIT_C126291 isDefinedBy ncit.owl @default.
- NCIT_C126291 label "TERT Deficiency" @default.
- NCIT_C126291 subClassOf B16b0650aa39d1e3c1ef31d8110aee49b @default.
- NCIT_C126291 subClassOf B9d4b7e07a7deb30ec6bf42d6c4e794c6 @default.
- NCIT_C126291 subClassOf NCIT_C126291 @default.
- NCIT_C126291 subClassOf NCIT_C27351 @default.
- NCIT_C126291 subClassOf NCIT_C27551 @default.
- NCIT_C126291 subClassOf NCIT_C28193 @default.
- NCIT_C126291 subClassOf NCIT_C2991 @default.
- NCIT_C126291 subClassOf NCIT_C3131 @default.
- NCIT_C126291 subClassOf NCIT_C3507 @default.
- NCIT_C126291 subClassOf NCIT_C7057 @default.