Cardiomyopathy, dilated, 1nn

Preferred Label : Cardiomyopathy, dilated, 1nn;

Symbol : CMD1NN;

CISMeF acronym : CMD1NN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the v-raf-1 murine leukemia viral oncogene homolog-1 gene (RAF1, 164760.0005);

Prefixed ID : #615916;

Details

Origin ID

615916;

UMLS CUI

C4014656;

Automatic exact mappings (from CISMeF team)
- RAF1 wt Allele [NCIt concept]
CISMeF manual mappings
- dilated cardiomyopathy 1NN [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1NN [DO Concept]
Genes related to phenotype
- Raf1 protooncogene, serine/threonine kinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Mitral regurgitation [HPO term]
- Ventricular arrhythmia [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dilated cardiomyopathy 1NN [DO Concept]

Keyword's position in hierarchy(ies) :

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