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- NCIT_C122805 IAO_0000115 "A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma." @default.
- NCIT_C122805 NCIT_A33 NCIT_C18772 @default.
- NCIT_C122805 NCIT_NHC0 "C122805" @default.
- NCIT_C122805 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C122805 NCIT_P108 "Frasier Syndrome" @default.
- NCIT_C122805 NCIT_P207 "C0950122" @default.
- NCIT_C122805 NCIT_P322 "NICHD" @default.
- NCIT_C122805 NCIT_P322 "PCDC" @default.
- NCIT_C122805 NCIT_P325 "A Wilms tumor 1 gene syndrome caused by a mutation in an intron of the WT1 gene that removes an alternative splice site resulting in loss of one isoform of the Wilms tumor protein. This condition is characterized by focal segmental glomerulosclerosis, gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and a high risk for the development of gonadoblastoma." @default.
- NCIT_C122805 NCIT_R176 NCIT_C16612 @default.
- NCIT_C122805 NCIT_R176 NCIT_C18262 @default.
- NCIT_C122805 NCIT_R176 NCIT_C20420 @default.
- NCIT_C122805 NCIT_R176 NCIT_C54362 @default.
- NCIT_C122805 normalizedInformationContent "100" @default.
- NCIT_C122805 referenceCount "1" @default.
- NCIT_C122805 hasExactSynonym "Frasier Syndrome" @default.
- NCIT_C122805 inSubset NCIT_C118467 @default.
- NCIT_C122805 inSubset NCIT_C123272 @default.
- NCIT_C122805 inSubset NCIT_C177383 @default.
- NCIT_C122805 inSubset NCIT_C177391 @default.
- NCIT_C122805 inSubset NCIT_C90259 @default.
- NCIT_C122805 type Class @default.
- NCIT_C122805 isDefinedBy ncit.owl @default.
- NCIT_C122805 label "Frasier Syndrome" @default.
- NCIT_C122805 subClassOf B18f49ad46383a4f87c830015d6b034da @default.
- NCIT_C122805 subClassOf Bf55b057248b161f1eca3eeac813c5da8 @default.
- NCIT_C122805 subClassOf NCIT_C122805 @default.
- NCIT_C122805 subClassOf NCIT_C28193 @default.
- NCIT_C122805 subClassOf NCIT_C2991 @default.
- NCIT_C122805 subClassOf NCIT_C7057 @default.