Progressive familial heart block, type ib

Preferred Label : Progressive familial heart block, type ib;

Symbol : PFHB1B;

CISMeF acronym : PFHBIB; PFHB1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PFHBIB;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily M, member 4 gene (TRPM4, 606936.0001);

Prefixed ID : #604559;

Details

Origin ID

604559;

UMLS CUI

C1970298;

Currated CISMeF NLP mapping
- Progressive familial heart block, type IB (disorder) [SNOMED CT concept]
- progressive familial heart block type IB [DO Concept]
- progressive familial heart block, type ib [MeSH concept]
- progressive familial heart block, type ib [MeSH Supplementary Concept]
DO Cross reference
- progressive familial heart block type IB [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily M, member 4 [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Left anterior fascicular block [HPO term]
- Prolonged QT interval [HPO term]
- Right bundle branch block [HPO term]
- Shortened PR interval [HPO term]
- Syncope [HPO term]
ORDO concept(s)
- Familial progressive cardiac conduction defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive familial heart block, type IB (disorder) [SNOMED CT concept]
- progressive familial heart block type IB [DO Concept]
- progressive familial heart block, type ib [MeSH Supplementary Concept]
- progressive familial heart block, type ib [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients