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- NCIT_C115326 IAO_0000115 "The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease." @default.
- NCIT_C115326 NCIT_NHC0 "C115326" @default.
- NCIT_C115326 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C115326 NCIT_P107 "Pearson Marrow-Pancreas Syndrome" @default.
- NCIT_C115326 NCIT_P108 "Pearson Syndrome" @default.
- NCIT_C115326 NCIT_P207 "C0342784" @default.
- NCIT_C115326 NCIT_P322 "CTRP" @default.
- NCIT_C115326 NCIT_P322 "Cellosaurus" @default.
- NCIT_C115326 NCIT_P322 "NICHD" @default.
- NCIT_C115326 NCIT_P325 "The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease." @default.
- NCIT_C115326 normalizedInformationContent "100" @default.
- NCIT_C115326 referenceCount "1" @default.
- NCIT_C115326 hasExactSynonym "Pearson Marrow-Pancreas Syndrome" @default.
- NCIT_C115326 hasExactSynonym "Pearson Syndrome" @default.
- NCIT_C115326 inSubset NCIT_C116977 @default.
- NCIT_C115326 inSubset NCIT_C118168 @default.
- NCIT_C115326 inSubset NCIT_C118467 @default.
- NCIT_C115326 inSubset NCIT_C165258 @default.
- NCIT_C115326 inSubset NCIT_C192842 @default.
- NCIT_C115326 inSubset NCIT_C90259 @default.
- NCIT_C115326 type Class @default.
- NCIT_C115326 isDefinedBy ncit.owl @default.
- NCIT_C115326 label "Pearson Syndrome" @default.
- NCIT_C115326 subClassOf NCIT_C115326 @default.
- NCIT_C115326 subClassOf NCIT_C28193 @default.
- NCIT_C115326 subClassOf NCIT_C2991 @default.
- NCIT_C115326 subClassOf NCIT_C4873 @default.
- NCIT_C115326 subClassOf NCIT_C53529 @default.
- NCIT_C115326 subClassOf NCIT_C53543 @default.
- NCIT_C115326 subClassOf NCIT_C53547 @default.
- NCIT_C115326 subClassOf NCIT_C7057 @default.