Preferred Label : Hypophosphatasia;
NCIt definition : 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.;
Alternative definition : NICHD: 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.;
Origin ID : C26798;
UMLS CUI : C0020630;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
- concept_is_in_subset
- disease_has_finding
- disease_mapped_to_gene
