Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy

Preferred Label : Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy;

Type : Phenotype, molecular basis known;

Prefixed ID : #605115;

Détails

Origin ID

605115;

UMLS CUI

C1854631;

Automatic exact mappings (from CISMeF team)
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor [ORDO Disease]
- hypertension, Early-Onset, autosomal dominant, with severe exacerbation in pregnancy [MeSH concept]
Currated CISMeF NLP mapping
- hypertension, Early-Onset, autosomal dominant, with severe exacerbation in pregnancy [MeSH Supplementary Concept]
Genes related to phenotype
- Nuclear receptor subfamily 3, group C, member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Decreased circulating renin level [HPO term]
- Hypertension [HPO term]
- Maternal hypertension [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor [ORDO Disease]
- hypertension, Early-Onset, autosomal dominant, with severe exacerbation in pregnancy [MeSH Supplementary Concept]
- hypertension, Early-Onset, autosomal dominant, with severe exacerbation in pregnancy [MeSH concept]

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

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