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- NCIT_C131000 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome." @default.
- NCIT_C131000 NCIT_NHC0 "C131000" @default.
- NCIT_C131000 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131000 NCIT_P108 "Rabson-Mendenhall Syndrome" @default.
- NCIT_C131000 NCIT_P207 "C0271695" @default.
- NCIT_C131000 NCIT_P322 "NICHD" @default.
- NCIT_C131000 NCIT_P325 "An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome." @default.
- NCIT_C131000 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131000 NCIT_R176 NCIT_C20103 @default.
- NCIT_C131000 NCIT_R176 NCIT_C20719 @default.
- NCIT_C131000 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131000 NCIT_R176 NCIT_C21295 @default.
- NCIT_C131000 NCIT_R176 NCIT_C24516 @default.
- NCIT_C131000 NCIT_R176 NCIT_C25870 @default.
- NCIT_C131000 NCIT_R176 NCIT_C25871 @default.
- NCIT_C131000 NCIT_R176 NCIT_C25872 @default.
- NCIT_C131000 normalizedInformationContent "100" @default.
- NCIT_C131000 referenceCount "1" @default.
- NCIT_C131000 hasExactSynonym "Rabson-Mendenhall Syndrome" @default.
- NCIT_C131000 inSubset NCIT_C118467 @default.
- NCIT_C131000 inSubset NCIT_C90259 @default.
- NCIT_C131000 type Class @default.
- NCIT_C131000 isDefinedBy ncit.owl @default.
- NCIT_C131000 label "Rabson-Mendenhall Syndrome" @default.
- NCIT_C131000 subClassOf B52da6677e1709061dd65dd8ab38efa37 @default.
- NCIT_C131000 subClassOf B76a521e65f2e71e08014e0427c4e3901 @default.
- NCIT_C131000 subClassOf NCIT_C131000 @default.
- NCIT_C131000 subClassOf NCIT_C28193 @default.
- NCIT_C131000 subClassOf NCIT_C2991 @default.
- NCIT_C131000 subClassOf NCIT_C7057 @default.