Hypertension and brachydactyly syndrome

Preferred Label : Hypertension and brachydactyly syndrome;

Symbol : HTNB;

CISMeF acronym : HTNB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachydactyly with hypertension; Brachydactyly, type e, with short stature and hypertension; Bilginturan syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cGMP-inhibited phosphodiesterase-3A gene (PDE3A, 123805.0001);

Prefixed ID : #112410;

Details

Origin ID

112410;

UMLS CUI

C1862170;

Automatic exact mappings (from CISMeF team)
- Brachydactyly and arterial hypertension syndrome (disorder) [SNOMED CT concept]
- Brachydactyly with hypertension [MeSH concept]
- PDE3A wt Allele [NCIt concept]
- hypertension and brachydactyly syndrome [DO Concept]
Currated CISMeF NLP mapping
- Brachydactyly - arterial hypertension [ICD-11 More detail]
- Brachydactyly-arterial hypertension syndrome [ORDO Disease]
- brachydactyly with hypertension [MeSH Supplementary Concept]
DO Cross reference
- hypertension and brachydactyly syndrome [DO Concept]
Genes related to phenotype
- Phosphodiesterase 3a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cone-shaped epiphysis [HPO term]
- Hypertension [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Brachydactyly-arterial hypertension syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly - arterial hypertension [ICD-11 More detail]
- Brachydactyly and arterial hypertension syndrome (disorder) [SNOMED CT concept]
- Brachydactyly with hypertension [MeSH concept]
- Brachydactyly-arterial hypertension syndrome [ORDO Disease]
- brachydactyly with hypertension [MeSH Supplementary Concept]
- hypertension and brachydactyly syndrome [DO Concept]

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