Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C178415> ?p ?o ?g. }
Showing items 1 to 29 of
29
with 100 items per page.
- NCIT_C178415 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis." @default.
- NCIT_C178415 NCIT_NHC0 "C178415" @default.
- NCIT_C178415 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C178415 NCIT_P108 "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis" @default.
- NCIT_C178415 NCIT_P207 "C3150099" @default.
- NCIT_C178415 NCIT_P322 "Cellosaurus" @default.
- NCIT_C178415 NCIT_R176 NCIT_C16612 @default.
- NCIT_C178415 NCIT_R176 NCIT_C21281 @default.
- NCIT_C178415 NCIT_R176 NCIT_C25939 @default.
- NCIT_C178415 NCIT_R176 NCIT_C26630 @default.
- NCIT_C178415 normalizedInformationContent "100" @default.
- NCIT_C178415 referenceCount "1" @default.
- NCIT_C178415 hasExactSynonym "ABS1" @default.
- NCIT_C178415 hasExactSynonym "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis" @default.
- NCIT_C178415 inSubset NCIT_C165258 @default.
- NCIT_C178415 inSubset NCIT_C192842 @default.
- NCIT_C178415 type Class @default.
- NCIT_C178415 isDefinedBy ncit.owl @default.
- NCIT_C178415 label "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis" @default.
- NCIT_C178415 subClassOf B1daa74d54e771ebb73b26d1d249c3108 @default.
- NCIT_C178415 subClassOf Bcd229849fff98dcb6fc0371b98f3c091 @default.
- NCIT_C178415 subClassOf NCIT_C178415 @default.
- NCIT_C178415 subClassOf NCIT_C28193 @default.
- NCIT_C178415 subClassOf NCIT_C2991 @default.
- NCIT_C178415 subClassOf NCIT_C4873 @default.
- NCIT_C178415 subClassOf NCIT_C53529 @default.
- NCIT_C178415 subClassOf NCIT_C53543 @default.
- NCIT_C178415 subClassOf NCIT_C53547 @default.
- NCIT_C178415 subClassOf NCIT_C7057 @default.