Heterotaxy, visceral, 8, autosomal

Preferred Label : Heterotaxy, visceral, 8, autosomal;

Symbol : HTX8;

CISMeF acronym : HTX8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polycystin 1-like 1 gene (PKD1L1, 609721.0001);

Prefixed ID : #617205;

Details

Origin ID

617205;

UMLS CUI

C4310668;

Genes related to phenotype
- Polycystin 1-like 1 [OMIM gene]
HPO term(s)
- Abdominal situs inversus [HPO term]
- Atrial situs ambiguous [HPO term]
- Autosomal recessive inheritance [HPO term]
- Double outlet right ventricle [HPO term]
- Hypoplastic left heart [HPO term]
- Pulmonary artery atresia [HPO term]
- Unbalanced atrioventricular canal defect [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Heterotaxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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