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- NCIT_C188216 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the MAP3K7 gene, encoding mitogen-activated protein kinase kinase kinase 7. It is characterized by growth retardation, short stature, failure to thrive, cardiac anomalies, and dysmorphic facial features." @default.
- NCIT_C188216 NCIT_NHC0 "C188216" @default.
- NCIT_C188216 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C188216 NCIT_P108 "Cardiospondylocarpofacial Syndrome" @default.
- NCIT_C188216 NCIT_P207 "C1834818" @default.
- NCIT_C188216 NCIT_P322 "Cellosaurus" @default.
- NCIT_C188216 NCIT_R176 NCIT_C16612 @default.
- NCIT_C188216 NCIT_R176 NCIT_C21281 @default.
- NCIT_C188216 NCIT_R176 NCIT_C24574 @default.
- NCIT_C188216 NCIT_R176 NCIT_C25870 @default.
- NCIT_C188216 NCIT_R176 NCIT_C25871 @default.
- NCIT_C188216 NCIT_R176 NCIT_C25872 @default.
- NCIT_C188216 NCIT_R176 NCIT_C25873 @default.
- NCIT_C188216 normalizedInformationContent "100" @default.
- NCIT_C188216 referenceCount "1" @default.
- NCIT_C188216 hasExactSynonym "CSCF" @default.
- NCIT_C188216 hasExactSynonym "Cardiospondylocarpofacial Syndrome" @default.
- NCIT_C188216 inSubset NCIT_C165258 @default.
- NCIT_C188216 inSubset NCIT_C192842 @default.
- NCIT_C188216 type Class @default.
- NCIT_C188216 isDefinedBy ncit.owl @default.
- NCIT_C188216 label "Cardiospondylocarpofacial Syndrome" @default.
- NCIT_C188216 subClassOf B3323a46d63c36794c3aabddf464983bc @default.
- NCIT_C188216 subClassOf Be2b6f7a199818f8781bc3ac25f6ad9dd @default.
- NCIT_C188216 subClassOf NCIT_C188216 @default.
- NCIT_C188216 subClassOf NCIT_C28193 @default.
- NCIT_C188216 subClassOf NCIT_C2991 @default.
- NCIT_C188216 subClassOf NCIT_C7057 @default.