Congenital heart defects, multiple types, 8, with or without heterotaxy

Preferred Label : Congenital heart defects, multiple types, 8, with or without heterotaxy;

Symbol : CHTD8;

Type : Phenotype, molecular basis known;

Prefixed ID : #619657;

Détails

Origin ID

619657;

UMLS CUI

C5562042;

Genes related to phenotype
- Smad family member 2 [OMIM gene]
HPO term(s)
- Anomalous pulmonary venous return [HPO term]
- Asplenia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Broad forehead [HPO term]
- Congenital onset [HPO term]
- Dextrocardia [HPO term]
- Dextrotransposition of the great arteries [HPO term]
- Double outlet right ventricle [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Intestinal malrotation [HPO term]
- Isomerism [HPO term]
- Laryngomalacia [HPO term]
- Left superior vena cava draining directly to the left atrium [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Midface retrusion [HPO term]
- Partial anomalous pulmonary venous return [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Pulmonic stenosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Subglottic stenosis [HPO term]
- Thoracic aortic aneurysm [HPO term]
- Toe syndactyly [HPO term]
- Unbalanced atrioventricular canal defect [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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