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- B7dd032253df5a2316fad224e27a64a32 NCIT_P378 "NICHD" @default.
- B7dd032253df5a2316fad224e27a64a32 type Axiom @default.
- B7dd032253df5a2316fad224e27a64a32 annotatedProperty NCIT_P325 @default.
- B7dd032253df5a2316fad224e27a64a32 annotatedSource NCIT_C26798 @default.
- B7dd032253df5a2316fad224e27a64a32 annotatedTarget "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.