Adams-oliver syndrome 5

Preferred Label : Adams-oliver syndrome 5;

Symbol : AOS5;

CISMeF acronym : AOS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the notch receptor 1 gene (NOTCH1, 190198.0003);

Prefixed ID : #616028;

Details

Origin ID

616028;

UMLS CUI

C4014970;

Automatic exact mappings (from CISMeF team)
- NOTCH1 wt Allele [NCIt concept]
DO Cross reference
- Adams-Oliver syndrome [DO Concept]
Genes related to phenotype
- Notch receptor 1 [OMIM gene]
HPO term(s)
- Aplasia cutis congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cavernous hemangioma [HPO term]
- Cutis marmorata telangiectatica congenita [HPO term]
- Dystrophic toenail [HPO term]
- Esophageal varix [HPO term]
- Hypersplenism [HPO term]
- Inguinal hernia [HPO term]
- Patent foramen ovale [HPO term]
- Portal vein thrombosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonic stenosis [HPO term]
- Right atrial enlargement [HPO term]
- Right ventricular hypertrophy [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Syndactyly [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Adams-Oliver syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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