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- NCIT_C26798 IAO_0000115 "A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders." @default.
- NCIT_C26798 NCIT_NHC0 "C26798" @default.
- NCIT_C26798 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C26798 NCIT_P108 "Hypophosphatasia" @default.
- NCIT_C26798 NCIT_P207 "C0020630" @default.
- NCIT_C26798 NCIT_P322 "Cellosaurus" @default.
- NCIT_C26798 NCIT_P322 "NICHD" @default.
- NCIT_C26798 NCIT_P325 "An autosomal recessive or dominant disorder caused by mutation(s) in the ALPL gene, encoding the alkaline phosphatase, tissue-nonspecific isozyme. The condition is characterized by absent or diminished alkaline phosphatase activity, resulting in the accumulation of inorganic pyrophosphate, which prevents mineralization of hydroxyapatite. The bone mineralization defects have a broad spectrum of severity: mild forms are characterized only by low serum alkaline phosphatase concentrations and early tooth loss; severe cases may manifest with hypercalcemia, and may result in stillbirth or early death. There are five subtypes identified primarily by the age of onset." @default.
- NCIT_C26798 NCIT_P366 "Hypophosphatasia" @default.
- NCIT_C26798 NCIT_R176 NCIT_C104230 @default.
- NCIT_C26798 NCIT_R176 NCIT_C16612 @default.
- NCIT_C26798 NCIT_R176 NCIT_C21281 @default.
- NCIT_C26798 NCIT_R176 NCIT_C25804 @default.
- NCIT_C26798 NCIT_R176 NCIT_C25952 @default.
- NCIT_C26798 NCIT_R176 NCIT_C26070 @default.
- NCIT_C26798 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C26798 referenceCount "2" @default.
- NCIT_C26798 hasExactSynonym "Hypophosphatasia" @default.
- NCIT_C26798 inSubset NCIT_C118467 @default.
- NCIT_C26798 inSubset NCIT_C165258 @default.
- NCIT_C26798 inSubset NCIT_C192842 @default.
- NCIT_C26798 inSubset NCIT_C90259 @default.
- NCIT_C26798 inSubset NCIT_C99147 @default.
- NCIT_C26798 type Class @default.
- NCIT_C26798 isDefinedBy ncit.owl @default.
- NCIT_C26798 label "Hypophosphatasia" @default.
- NCIT_C26798 subClassOf B114e4aed77e54e5988a415d792fa874a @default.
- NCIT_C26798 subClassOf B646a1ae3d3ef07d9048e3b9e66e57e43 @default.
- NCIT_C26798 subClassOf NCIT_C26798 @default.
- NCIT_C26798 subClassOf NCIT_C2991 @default.
- NCIT_C26798 subClassOf NCIT_C3235 @default.
- NCIT_C26798 subClassOf NCIT_C4873 @default.
- NCIT_C26798 subClassOf NCIT_C53529 @default.
- NCIT_C26798 subClassOf NCIT_C53543 @default.
- NCIT_C26798 subClassOf NCIT_C53547 @default.
- NCIT_C26798 subClassOf NCIT_C7057 @default.