Adams-oliver syndrome 6

Preferred Label : Adams-oliver syndrome 6;

Symbol : AOS6;

CISMeF acronym : AOS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the delta-like-4 gene (DLL4, 605185.0001);

Prefixed ID : #616589;

Details

Origin ID

616589;

UMLS CUI

C4225271;

Genes related to phenotype
- Delta-like canonical notch ligand 4 [OMIM gene]
HPO term(s)
- Aplasia cutis congenita of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Calvarial skull defect [HPO term]
- Cutis marmorata [HPO term]
- Esophageal varix [HPO term]
- Foot oligodactyly [HPO term]
- Hepatic fibrosis [HPO term]
- Hypoplastic toenails [HPO term]
- Portal hypertension [HPO term]
- Renal hypoplasia [HPO term]
- Syndactyly [HPO term]
- Tricuspid regurgitation [HPO term]
- Truncus arteriosus [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Adams-Oliver syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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