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- NCIT_C176942 IAO_0000115 "An inherited condition caused by autosomal dominant mutation(s) in the CBL gene, encoding E3 ubiquitin-protein ligase CBL. The condition resembles Noonan syndrome 1 and is characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Affected individuals may have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia." @default.
- NCIT_C176942 NCIT_A13 NCIT_C18364 @default.
- NCIT_C176942 NCIT_NHC0 "C176942" @default.
- NCIT_C176942 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176942 NCIT_P108 "Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia" @default.
- NCIT_C176942 NCIT_P207 "C3150803" @default.
- NCIT_C176942 NCIT_P322 "CCPS" @default.
- NCIT_C176942 NCIT_R176 NCIT_C133710 @default.
- NCIT_C176942 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176942 NCIT_R176 NCIT_C18364 @default.
- NCIT_C176942 NCIT_R176 NCIT_C21281 @default.
- NCIT_C176942 NCIT_R176 NCIT_C25870 @default.
- NCIT_C176942 normalizedInformationContent "100" @default.
- NCIT_C176942 referenceCount "1" @default.
- NCIT_C176942 hasExactSynonym "CBL Mutation-Associated Syndrome" @default.
- NCIT_C176942 hasExactSynonym "CBL Syndrome" @default.
- NCIT_C176942 hasExactSynonym "NSLL" @default.
- NCIT_C176942 hasExactSynonym "Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia" @default.
- NCIT_C176942 inSubset NCIT_C177281 @default.
- NCIT_C176942 inSubset NCIT_C177516 @default.
- NCIT_C176942 type Class @default.
- NCIT_C176942 isDefinedBy ncit.owl @default.
- NCIT_C176942 label "Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia" @default.
- NCIT_C176942 subClassOf B40afa101001bcc44921c1c2a266632fa @default.
- NCIT_C176942 subClassOf B49083e05d34b5683c7516791d19c1b46 @default.
- NCIT_C176942 subClassOf NCIT_C176942 @default.
- NCIT_C176942 subClassOf NCIT_C28193 @default.
- NCIT_C176942 subClassOf NCIT_C2991 @default.
- NCIT_C176942 subClassOf NCIT_C3101 @default.
- NCIT_C176942 subClassOf NCIT_C7057 @default.