Autoinflammatory disease, familial, behcet-like 3

Preferred Label : Autoinflammatory disease, familial, behcet-like 3;

Symbol : AIFBL3;

CISMeF acronym : CMCU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMCU; Mucocutaneous ulceration, chronic;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NF-kB subunit of the RELA proto-oncogene (RELA, 164014.0001);

Prefixed ID : #618287;

Details

Origin ID

618287;

UMLS CUI

C4748997;

Genes related to phenotype
- Rela protooncogene, nfkb subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ileitis [HPO term]
- Oral ulcer [HPO term]
- Vaginal mucosal ulceration [HPO term]
Not associated HPO term(s)
- Recurrent infections [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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