Immunodeficiency 82 with systemic inflammation

Preferred Label : Immunodeficiency 82 with systemic inflammation;

Symbol : IMD82;

Type : Phenotype, molecular basis known;

Prefixed ID : #619381;

Details

Origin ID

619381;

UMLS CUI

C5543581;

Genes related to phenotype
- Protein-tyrosine kinase syk [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Anemia [HPO term]
- Anoperineal fistula [HPO term]
- Anorexia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- B lymphocytopenia [HPO term]
- B-cell lymphoma [HPO term]
- Bowel irritability [HPO term]
- Bronchiectasis [HPO term]
- Bronchitis [HPO term]
- Cholesteatoma [HPO term]
- Colitis [HPO term]
- Crohn's disease [HPO term]
- Decreased circulating total IgA [HPO term]
- Decreased circulating total IgG [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased lymphocyte proliferation in response to mitogen [HPO term]
- Decreased proportion of naive T cells [HPO term]
- Diarrhea [HPO term]
- Duodenal ulcer [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Follicular hyperplasia [HPO term]
- Gastritis [HPO term]
- Hepatitis [HPO term]
- Hypernatremia [HPO term]
- Hypoalbuminemia [HPO term]
- Intractable diarrhea [HPO term]
- Joint swelling [HPO term]
- Lymphadenopathy [HPO term]
- Oral ulcer [HPO term]
- Osteomalacia [HPO term]
- Osteomyelitis [HPO term]
- Pneumonia [HPO term]
- Postauricular pit [HPO term]
- Pustular rash [HPO term]
- Recurrent abscess formation [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent skin infections [HPO term]
- Reduced natural killer cell count [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- T lymphocytopenia [HPO term]
- Vasculitis in the skin [HPO term]
- Villous atrophy [HPO term]
- Vomiting [HPO term]
- Weight loss [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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