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- NCIT_C131004 IAO_0000115 "An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay." @default.
- NCIT_C131004 NCIT_NHC0 "C131004" @default.
- NCIT_C131004 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131004 NCIT_P108 "Sotos Syndrome" @default.
- NCIT_C131004 NCIT_P200 "Syndrome" @default.
- NCIT_C131004 NCIT_P310 "Retired_Concept" @default.
- NCIT_C131004 NCIT_P98 "Thu Feb 23 10:46:41 EST 2017 - See 'Sotos_Syndrome(C75019)'" @default.
- NCIT_C131004 normalizedInformationContent "100" @default.
- NCIT_C131004 referenceCount "1" @default.
- NCIT_C131004 hasExactSynonym "Sotos Syndrome" @default.
- NCIT_C131004 type Class @default.
- NCIT_C131004 isDefinedBy ncit.owl @default.
- NCIT_C131004 label "Sotos Syndrome" @default.
- NCIT_C131004 subClassOf NCIT_C131004 @default.
- NCIT_C131004 subClassOf NCIT_C143136 @default.
- NCIT_C131004 subClassOf NCIT_C28428 @default.
- NCIT_C131004 deprecated "true" @default.