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- NCIT_C135087 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency." @default.
- NCIT_C135087 NCIT_NHC0 "C135087" @default.
- NCIT_C135087 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C135087 NCIT_P108 "Schimke Immunoosseous Dysplasia" @default.
- NCIT_C135087 NCIT_P207 "C0877024" @default.
- NCIT_C135087 NCIT_P322 "Cellosaurus" @default.
- NCIT_C135087 NCIT_R176 NCIT_C16612 @default.
- NCIT_C135087 NCIT_R176 NCIT_C191835 @default.
- NCIT_C135087 NCIT_R176 NCIT_C19880 @default.
- NCIT_C135087 NCIT_R176 NCIT_C21281 @default.
- NCIT_C135087 NCIT_R176 NCIT_C25804 @default.
- NCIT_C135087 NCIT_R176 NCIT_C26057 @default.
- NCIT_C135087 NCIT_R176 NCIT_C54362 @default.
- NCIT_C135087 normalizedInformationContent "100" @default.
- NCIT_C135087 referenceCount "1" @default.
- NCIT_C135087 hasExactSynonym "Schimke Immuno-Osseous Dysplasia" @default.
- NCIT_C135087 hasExactSynonym "Schimke Immunoosseous Dysplasia" @default.
- NCIT_C135087 inSubset NCIT_C165258 @default.
- NCIT_C135087 inSubset NCIT_C192842 @default.
- NCIT_C135087 type Class @default.
- NCIT_C135087 isDefinedBy ncit.owl @default.
- NCIT_C135087 label "Schimke Immunoosseous Dysplasia" @default.
- NCIT_C135087 subClassOf B75e7cd37fb975de5c6f40fc3a68601d9 @default.
- NCIT_C135087 subClassOf B9c7d920504ef38e4c9969bb9d2ba2fb9 @default.
- NCIT_C135087 subClassOf NCIT_C135087 @default.
- NCIT_C135087 subClassOf NCIT_C2991 @default.
- NCIT_C135087 subClassOf NCIT_C4873 @default.
- NCIT_C135087 subClassOf NCIT_C53529 @default.
- NCIT_C135087 subClassOf NCIT_C53543 @default.
- NCIT_C135087 subClassOf NCIT_C53547 @default.
- NCIT_C135087 subClassOf NCIT_C7057 @default.