neonatal severe primary hyperparathyroidism
3.5 mM) from birth and associated with major hyperparathyroidism.
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Summary
neonatal severe primary hyperparathyroidism is a rare disease[1].
Key Facts
- Instance of: class of disease[2]
- Subclass of: primary hyperparathyroidism[3], inherited tumor[4], primary bone dysplasia with defective bone mineralization[5], connective tissue neoplasm[6], developmental defect during embryogenesis[7]
- NCI Thesaurus ID: C131853[8]
- Genetic association: CASR[9], TRPV6[10]
- Age of onset: neonatal onset[11]
- Has phenotype: narrow chest[12], thyroid gland disease[13], abnormality of the metaphysis[14], hypotonia[15], splenomegaly[16], hepatomegaly[17], multiple fracture[18], aminoaciduria[19], short stature[20], abnormal calcium-phosphate regulating hormone level[21]
- P14914: D00417[22]