Cardiomyopathy, dilated, 1d

Preferred Label : Cardiomyopathy, dilated, 1d;

Symbol : CMD1D;

CISMeF acronym : CMD1D; LVNC6;

Type : Phenotype, molecular basis known;

Included titles and symbols : Left ventricular noncompaction 6; LVNC6;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cardiac troponin-T2 gene (TNNT2, 191045.0001);

Prefixed ID : #601494;

Détails

Origin ID

601494;

UMLS CUI

C1832243;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Left ventricular noncompaction [ORDO Disease]
- TNNT2 wt Allele [NCIt concept]
- symbol withdrawn CMD1D [HGNC gene]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1D [MeSH concept]
- cardiomyopathy, dilated, 1D [MeSH Supplementary Concept]
- dilated cardiomyopathy 1D [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1D [DO Concept]
Genes related to phenotype
- Troponin t2, cardiac [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Sudden death [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Left ventricular noncompaction [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dilated Cardiomyopathy-1D [NCIt concept]
- cardiomyopathy, dilated, 1D [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1D [MeSH concept]
- dilated cardiomyopathy 1D [DO Concept]

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

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