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- NCIT_C131002 IAO_0000115 "An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities." @default.
- NCIT_C131002 NCIT_A13 NCIT_C177295 @default.
- NCIT_C131002 NCIT_A13 NCIT_C75879 @default.
- NCIT_C131002 NCIT_A13 NCIT_C88173 @default.
- NCIT_C131002 NCIT_NHC0 "C131002" @default.
- NCIT_C131002 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131002 NCIT_P108 "Simpson-Golabi-Behmel Syndrome" @default.
- NCIT_C131002 NCIT_P208 "CL513991" @default.
- NCIT_C131002 NCIT_P322 "CCPS" @default.
- NCIT_C131002 NCIT_P322 "NICHD" @default.
- NCIT_C131002 NCIT_P325 "An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities." @default.
- NCIT_C131002 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C131002 referenceCount "2" @default.
- NCIT_C131002 hasExactSynonym "Simpson Dysmorphia Syndrome" @default.
- NCIT_C131002 hasExactSynonym "Simpson-Golabi-Behmel Syndrome" @default.
- NCIT_C131002 inSubset NCIT_C118467 @default.
- NCIT_C131002 inSubset NCIT_C177281 @default.
- NCIT_C131002 inSubset NCIT_C177516 @default.
- NCIT_C131002 inSubset NCIT_C90259 @default.
- NCIT_C131002 type Class @default.
- NCIT_C131002 isDefinedBy ncit.owl @default.
- NCIT_C131002 label "Simpson-Golabi-Behmel Syndrome" @default.
- NCIT_C131002 subClassOf NCIT_C131002 @default.
- NCIT_C131002 subClassOf NCIT_C28193 @default.
- NCIT_C131002 subClassOf NCIT_C2991 @default.
- NCIT_C131002 subClassOf NCIT_C7057 @default.