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- NCIT_C186306 IAO_0000115 "An X-linked recessive condition caused by mutation(s) in the GPC4 gene, encoding glypican-4. It is characterized by multiple congenital abnormalities, including distinctive facial dysmorphism, sensorineural hearing loss, variable learning difficulties, and digital anomalies." @default.
- NCIT_C186306 NCIT_NHC0 "C186306" @default.
- NCIT_C186306 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C186306 NCIT_P108 "Keipert Syndrome" @default.
- NCIT_C186306 NCIT_P207 "C1850627" @default.
- NCIT_C186306 NCIT_P322 "Cellosaurus" @default.
- NCIT_C186306 NCIT_R176 NCIT_C16612 @default.
- NCIT_C186306 NCIT_R176 NCIT_C177295 @default.
- NCIT_C186306 NCIT_R176 NCIT_C21295 @default.
- NCIT_C186306 normalizedInformationContent "100" @default.
- NCIT_C186306 referenceCount "1" @default.
- NCIT_C186306 hasExactSynonym "KPTS" @default.
- NCIT_C186306 hasExactSynonym "Keipert Syndrome" @default.
- NCIT_C186306 inSubset NCIT_C165258 @default.
- NCIT_C186306 inSubset NCIT_C192842 @default.
- NCIT_C186306 type Class @default.
- NCIT_C186306 isDefinedBy ncit.owl @default.
- NCIT_C186306 label "Keipert Syndrome" @default.
- NCIT_C186306 subClassOf B2562a2780e093a24b8f59d61f5d67964 @default.
- NCIT_C186306 subClassOf Ba445e555a0620a75cc137b81c1fb77b3 @default.
- NCIT_C186306 subClassOf NCIT_C186306 @default.
- NCIT_C186306 subClassOf NCIT_C28193 @default.
- NCIT_C186306 subClassOf NCIT_C2991 @default.
- NCIT_C186306 subClassOf NCIT_C7057 @default.