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- NCIT_C138174 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the EPG5 gene, encoding ectopic P granules protein 5 homolog. It is characterized by variable immunodeficiency, cleft lip/palate, cataracts, hypopigmentation, and absent corpus callosum." @default.
- NCIT_C138174 NCIT_NHC0 "C138174" @default.
- NCIT_C138174 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C138174 NCIT_P108 "Vici Syndrome" @default.
- NCIT_C138174 NCIT_P207 "C1855772" @default.
- NCIT_C138174 NCIT_P322 "Cellosaurus" @default.
- NCIT_C138174 NCIT_R176 NCIT_C16612 @default.
- NCIT_C138174 NCIT_R176 NCIT_C201099 @default.
- NCIT_C138174 NCIT_R176 NCIT_C20194 @default.
- NCIT_C138174 normalizedInformationContent "100" @default.
- NCIT_C138174 referenceCount "1" @default.
- NCIT_C138174 hasExactSynonym "VICIS" @default.
- NCIT_C138174 hasExactSynonym "Vici Syndrome" @default.
- NCIT_C138174 inSubset NCIT_C165258 @default.
- NCIT_C138174 inSubset NCIT_C192842 @default.
- NCIT_C138174 type Class @default.
- NCIT_C138174 isDefinedBy ncit.owl @default.
- NCIT_C138174 label "Vici Syndrome" @default.
- NCIT_C138174 subClassOf B2f04311c7e58d1dc29f0d0e5ffcc55f6 @default.
- NCIT_C138174 subClassOf Ba206c26501b279732cb3e900429e2301 @default.
- NCIT_C138174 subClassOf NCIT_C138174 @default.
- NCIT_C138174 subClassOf NCIT_C28193 @default.
- NCIT_C138174 subClassOf NCIT_C2991 @default.
- NCIT_C138174 subClassOf NCIT_C7057 @default.