Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria

Preferred Label : Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 239199;

Details

Origin ID

239199;

UMLS CUI

C1855924;

Currated CISMeF NLP mapping
- hyperparathyroidism, neonatal Self-Limited primary, with hypercalciuria [MeSH concept]
- hyperparathyroidism, neonatal Self-Limited primary, with hypercalciuria [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hyperparathyroidism [HPO term]
- Nephrocalcinosis [HPO term]
- Renal tubular acidosis [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperparathyroidism, neonatal Self-Limited primary, with hypercalciuria [MeSH Supplementary Concept]
- hyperparathyroidism, neonatal Self-Limited primary, with hypercalciuria [MeSH concept]

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