Cardiac valvular dysplasia 1

Preferred Label : Cardiac valvular dysplasia 1;

Symbol : CVDP1;

CISMeF acronym : CVDD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylcholine-specific phospholipase D1 gene (PLD1, 602382.0001);

Prefixed ID : #212093;

Details

Origin ID

212093;

UMLS CUI

C5774175;

Automatic exact mappings (from CISMeF team)
- developmental cardiac valvular defect [DO Concept]
Currated CISMeF NLP mapping
- cardiac valvular defect, developmental [MeSH concept]
- cardiac valvular defect, developmental [MeSH Supplementary Concept]
DO Cross reference
- developmental cardiac valvular defect [DO Concept]
False automatic mappings
- CVDD Regimen [NCIt concept]
Genes related to phenotype
- Phospholipase d1, phosphatidylcholine-specific [OMIM gene]
HPO term(s)
- Arteria lusoria [HPO term]
- Atrioventricular valves thickened [HPO term]
- Autosomal recessive inheritance [HPO term]
- Edema [HPO term]
- Hydronephrosis [HPO term]
- Hydrops fetalis [HPO term]
- Hydroureter [HPO term]
- Inguinal hernia [HPO term]
- Mitral stenosis [HPO term]
- Mitral valve prolapse [HPO term]
- Patent foramen ovale [HPO term]
- Tricuspid atresia [HPO term]
- Tricuspid regurgitation [HPO term]
- Tricuspid valve prolapse [HPO term]
- Urethral diverticulum [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiac valvular defect, developmental [MeSH Supplementary Concept]
- cardiac valvular defect, developmental [MeSH concept]

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