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neonatal severe primary hyperparathyroidism

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
Uniprot Description A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.
Mondo Term and Equivalent IDs
MONDO:0009397:  neonatal severe primary hyperparathyroidism
GARD:0002838: 
MESH:C563375: 
NCIT:C131853: 
Orphanet:417: 
SCTID:715218009: 
UMLS:C1832615: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found