Hyperparathyroidism 1

Preferred Label : Hyperparathyroidism 1;

Symbol : HRPT1;

CISMeF acronym : FIHP; HRPT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperparathyroidism, familial isolated primary; FIHP;

Included titles and symbols : Parathyroid adenoma, familial;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of S cerevisiae cell division cycle protein-73 gene (CDC73, 607393.0004);

Laboratory abnormalities : Hypercalcemia; Primary chief cell hyperplasia;

Prefixed ID : #145000;

Détails

Origin ID

145000;

UMLS CUI

C1840402;

Automatic exact mappings (from CISMeF team)
- CDC73 wt Allele [NCIt concept]
- Familial parathyroid adenoma [ICD-11 More detail]
- Hyperparathyroidism 1 gene [ORDO Gene]
- cell division cycle 73 [ORDO Gene]
Currated CISMeF NLP mapping
- Familial primary hyperparathyroidism [ORDO Disease]
- Familial primary hyperparathyroidism (disorder) [SNOMED CT concept]
- Hereditary Isolated Hyperparathyroidism [NCIt concept]
- hyperparathyroidism 1 [MeSH concept]
- hyperparathyroidism 1 [MeSH Supplementary Concept]
DO Cross reference
- hyperparathyroidism [DO Concept]
Genes related to phenotype
- Cell division cycle 73 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypercalcemia [HPO term]
- Primary hyperparathyroidism [HPO term]
ORDO concept(s)
- Familial isolated hyperparathyroidism [ORDO Disease]
- Familial parathyroid adenoma [ORDO Disease]
- Hyperparathyroidism 1 gene [ORDO Gene]
See also inter- (CISMeF)
- Familial isolated hyperparathyroidism [ORDO Disease]
- Familial parathyroid adenoma [ORDO Disease]
- Hyperparathyroidism 1 gene [ORDO Gene]
- parathyroid adenoma, familial [MeSH concept]
- symbol withdrawn HRPT1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperparathyroidism 1 [MeSH Supplementary Concept]
- hyperparathyroidism 1 [MeSH concept]
Validated automatic mappings to NTBT
- hyperparathyroidism [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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