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autosomal recessive infantile hypercalcemia
Disease Summary
Associated Targets (3)
Tchem
2
Tbio
1
Mondo Description A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C129734
Orphanet:300547
SCTID:34225008
UMLS:C4329374
UMLS:CN203398
MONDO:0007749
High level summary of knowledge for a disease, including descriptions and datasource references.