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- NCIT_C156430 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the DNMT3B gene, encoding DNA (cytosine-5)-methyltransferase 3B. It is characterized by immunoglobulin deficiency, centromeric instability of chromosomes 1,9, and 19 (rarely chromosome 2), and facial dysmorphism." @default.
- NCIT_C156430 NCIT_NHC0 "C156430" @default.
- NCIT_C156430 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C156430 NCIT_P108 "Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1" @default.
- NCIT_C156430 NCIT_P207 "C0398788" @default.
- NCIT_C156430 NCIT_P322 "Cellosaurus" @default.
- NCIT_C156430 NCIT_R176 NCIT_C16612 @default.
- NCIT_C156430 NCIT_R176 NCIT_C21281 @default.
- NCIT_C156430 NCIT_R176 NCIT_C24346 @default.
- NCIT_C156430 NCIT_R176 NCIT_C25870 @default.
- NCIT_C156430 NCIT_R176 NCIT_C26110 @default.
- NCIT_C156430 normalizedInformationContent "100" @default.
- NCIT_C156430 referenceCount "1" @default.
- NCIT_C156430 hasExactSynonym "Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1" @default.
- NCIT_C156430 inSubset NCIT_C165258 @default.
- NCIT_C156430 inSubset NCIT_C192842 @default.
- NCIT_C156430 type Class @default.
- NCIT_C156430 isDefinedBy ncit.owl @default.
- NCIT_C156430 label "Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1" @default.
- NCIT_C156430 subClassOf B8e3120234e6fd41249cc075cd090d198 @default.
- NCIT_C156430 subClassOf Bd29b95036b180338fe8925f5cb7022f1 @default.
- NCIT_C156430 subClassOf NCIT_C156430 @default.
- NCIT_C156430 subClassOf NCIT_C2991 @default.
- NCIT_C156430 subClassOf NCIT_C4873 @default.
- NCIT_C156430 subClassOf NCIT_C53529 @default.
- NCIT_C156430 subClassOf NCIT_C53543 @default.
- NCIT_C156430 subClassOf NCIT_C53547 @default.
- NCIT_C156430 subClassOf NCIT_C7057 @default.