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- NCIT_C84820 IAO_0000115 "A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness." @default.
- NCIT_C84820 NCIT_A13 NCIT_C26337 @default.
- NCIT_C84820 NCIT_NHC0 "C84820" @default.
- NCIT_C84820 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84820 NCIT_P108 "LEOPARD Syndrome" @default.
- NCIT_C84820 NCIT_P207 "C0175704" @default.
- NCIT_C84820 NCIT_P322 "CCPS" @default.
- NCIT_C84820 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84820 NCIT_P322 "NICHD" @default.
- NCIT_C84820 NCIT_P325 "A genetic syndrome caused by mutation(s) in the PTPN11, RAF1, or the BRAF genes, encoding tyrosine-protein phosphatase non-receptor type 11 and RAF proto-oncogene serine/threonine-protein kinase, and serine/threonine-protein kinase B-raf, respectively. Affected male individuals may exhibit unilateral or bilateral cryptorchidism, small penis, and/or hypospadias (urinary meatus on the dorsal side of the penis). Affected female individuals may have ovarian hypoplasia or agenesis. Primary hypogonadism in both female and male individuals may result in delayed puberty." @default.
- NCIT_C84820 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84820 NCIT_R176 NCIT_C20731 @default.
- NCIT_C84820 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84820 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84820 NCIT_R176 NCIT_C25952 @default.
- NCIT_C84820 NCIT_R176 NCIT_C25972 @default.
- NCIT_C84820 NCIT_R176 NCIT_C26059 @default.
- NCIT_C84820 NCIT_R176 NCIT_C26070 @default.
- NCIT_C84820 NCIT_R176 NCIT_C26337 @default.
- NCIT_C84820 normalizedInformationContent "100" @default.
- NCIT_C84820 referenceCount "1" @default.
- NCIT_C84820 hasExactSynonym "LEOPARD Syndrome" @default.
- NCIT_C84820 hasExactSynonym "Lentigines, Electrocardiographic Conduction Defects, Ocular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness" @default.
- NCIT_C84820 hasExactSynonym "Multiple Lentigines Syndrome" @default.
- NCIT_C84820 inSubset NCIT_C118467 @default.
- NCIT_C84820 inSubset NCIT_C165258 @default.
- NCIT_C84820 inSubset NCIT_C177281 @default.
- NCIT_C84820 inSubset NCIT_C177516 @default.
- NCIT_C84820 inSubset NCIT_C192842 @default.
- NCIT_C84820 inSubset NCIT_C90259 @default.
- NCIT_C84820 type Class @default.
- NCIT_C84820 isDefinedBy ncit.owl @default.
- NCIT_C84820 label "LEOPARD Syndrome" @default.
- NCIT_C84820 subClassOf B7be93af08a163f2587dd52a00256454f @default.
- NCIT_C84820 subClassOf Ba361816a960ceb730dfbf8ae6afb8394 @default.
- NCIT_C84820 subClassOf NCIT_C179667 @default.
- NCIT_C84820 subClassOf NCIT_C28193 @default.
- NCIT_C84820 subClassOf NCIT_C2991 @default.
- NCIT_C84820 subClassOf NCIT_C3101 @default.
- NCIT_C84820 subClassOf NCIT_C4873 @default.
- NCIT_C84820 subClassOf NCIT_C53529 @default.
- NCIT_C84820 subClassOf NCIT_C53543 @default.
- NCIT_C84820 subClassOf NCIT_C53547 @default.
- NCIT_C84820 subClassOf NCIT_C7057 @default.
- NCIT_C84820 subClassOf NCIT_C84820 @default.