Renal Parathyroid Hormone Resistance

Preferred Label : Renal Parathyroid Hormone Resistance;

NCIt related terms : Pseudohypoparathyroidism Type 1b;

Alternative definition : NICHD: Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone.;

Details

Origin ID

C131135;

UMLS CUI

C2932715;

Automatic exact mappings (from CISMeF team)
- Pseudohypoparathyroidism Type 1B [MeSH concept]
- Pseudohypoparathyroidism type 1B [ORDO Disease]
- Pseudohypoparathyroidism type 1B [ICD-11 More detail]
- pseudohypoparathyroidism type 1B [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoparathyroidism Type 1B [MeSH concept]
- pseudohypoparathyroidism type 1B [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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