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- NCIT_C84906 IAO_0000115 "An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain." @default.
- NCIT_C84906 NCIT_A13 NCIT_C177198 @default.
- NCIT_C84906 NCIT_NHC0 "C84906" @default.
- NCIT_C84906 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84906 NCIT_P108 "Mulibrey Nanism" @default.
- NCIT_C84906 NCIT_P207 "C0524582" @default.
- NCIT_C84906 NCIT_P322 "CCPS" @default.
- NCIT_C84906 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84906 NCIT_P322 "NICHD" @default.
- NCIT_C84906 NCIT_P325 "An autosomal recessive disorder caused by mutation(s) in the TRIM37 gene, encoding E3 ubiquitin-protein ligase TRIM37. Mulibrey is a contraction of muscle, liver, brain, and eyes. "Nanism" is a synonym for "dwarfism". This condition is associated with characteristic facial features, including hypertelorism, pubertal delay, occasional progressive cardiomyopathy, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor." @default.
- NCIT_C84906 NCIT_R176 NCIT_C133710 @default.
- NCIT_C84906 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84906 NCIT_R176 NCIT_C177198 @default.
- NCIT_C84906 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84906 NCIT_R176 NCIT_C25870 @default.
- NCIT_C84906 normalizedInformationContent "100" @default.
- NCIT_C84906 referenceCount "1" @default.
- NCIT_C84906 hasExactSynonym "Mulibrey Nanism" @default.
- NCIT_C84906 hasExactSynonym "Perheentupa Syndrome" @default.
- NCIT_C84906 inSubset NCIT_C118467 @default.
- NCIT_C84906 inSubset NCIT_C165258 @default.
- NCIT_C84906 inSubset NCIT_C177281 @default.
- NCIT_C84906 inSubset NCIT_C177516 @default.
- NCIT_C84906 inSubset NCIT_C192842 @default.
- NCIT_C84906 inSubset NCIT_C90259 @default.
- NCIT_C84906 type Class @default.
- NCIT_C84906 isDefinedBy ncit.owl @default.
- NCIT_C84906 label "Mulibrey Nanism" @default.
- NCIT_C84906 subClassOf B6634019900b68394da6d7ce11bd5d3fc @default.
- NCIT_C84906 subClassOf Bb93c1bd318fbe2c07915a7178ce5d8a1 @default.
- NCIT_C84906 subClassOf NCIT_C28193 @default.
- NCIT_C84906 subClassOf NCIT_C2991 @default.
- NCIT_C84906 subClassOf NCIT_C4873 @default.
- NCIT_C84906 subClassOf NCIT_C53529 @default.
- NCIT_C84906 subClassOf NCIT_C53543 @default.
- NCIT_C84906 subClassOf NCIT_C53547 @default.
- NCIT_C84906 subClassOf NCIT_C7057 @default.
- NCIT_C84906 subClassOf NCIT_C84906 @default.