has material basis in germline mutation in disease has feature CASR Abnormality of bone mineral density neonatal severe primary hyperparathyroidism https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/hyperparathyroidism_neonatal_severe icd11.foundation:1929875111 Orphanet:417 OMIM:239200 neonatal severe hyperparathyroidism NSHPT hyperparathyroidism, neonatal NCIT:C131853 MEDGEN:331326 GARD:0002838 UMLS:C1832615 MESH:C563375 SCTID:715218009 hyperparathyroidism, neonatal severe Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. MONDO:0009397 familial primary hyperparathyroidism bone neoplasm obsolete primary bone dysplasia with defective bone mineralization hereditary disorder of connective tissue abnormal mineralization disorder