Alagille syndrome 2

Preferred Label : Alagille syndrome 2;

Symbol : ALGS2;

CISMeF acronym : ALGS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Notch receptor 2 gene (NOTCH2, 600275.0001);

Prefixed ID : #610205;

Details

Origin ID

610205;

UMLS CUI

C1857761;

Automatic exact mappings (from CISMeF team)
- Alagille syndrome due to a NOTCH2 point mutation [ORDO Disease]
- alagille syndrome [MeSH Descriptor]
Broader ORDO disease(s)
- Alagille syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- alagille syndrome 2 [MeSH concept]
DO Cross reference
- Alagille syndrome [DO Concept]
Genes related to phenotype
- Notch receptor 2 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Cholestasis [HPO term]
- Cholestatic liver disease [HPO term]
- Hematuria [HPO term]
- Hypertension [HPO term]
- Long nose [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Pointed chin [HPO term]
- Posterior embryotoxon [HPO term]
- Proteinuria [HPO term]
- Pulmonic stenosis [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular acidosis [HPO term]
- Tetralogy of Fallot [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Alagille syndrome [ORDO Disease]
- Alagille syndrome due to a NOTCH2 point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- alagille syndrome 2 [MeSH concept]

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