Hyper-ige syndrome 3, autosomal recessive, with recurrent infections

Preferred Label : Hyper-ige syndrome 3, autosomal recessive, with recurrent infections;

Symbol : HIES3;

CISMeF acronym : HIES3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-ige recurrent infection syndrome 3, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger protein 341 gene (ZNF341, 618269.0001);

Prefixed ID : #618282;

Details

Origin ID

618282;

UMLS CUI

C4748969;

Automatic exact mappings (from CISMeF team)
- ZNF341 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- hyper IgE recurrent infection syndrome 3 [DO Concept]
DO Cross reference
- hyper IgE recurrent infection syndrome 3 [DO Concept]
Genes related to phenotype
- Zinc finger protein 341 [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Alopecia [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Eczema [HPO term]
- Eosinophilia [HPO term]
- High palate [HPO term]
- Joint hypermobility [HPO term]
- Micrognathia [HPO term]
- Pruritus [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent skin infections [HPO term]
- Wide nose [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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