Immunodeficiency 92

Preferred Label : Immunodeficiency 92;

Symbol : IMD92;

Type : Phenotype, molecular basis known;

Prefixed ID : #619652;

Origin ID

619652;

UMLS CUI

C5562039;

Genes related to phenotype
- Rel protooncogene, nf-kappa-b subunit [OMIM gene]
HPO term(s)
- Abnormal B cell proliferation [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- BCGosis [HPO term]
- Childhood onset [HPO term]
- Cholangitis [HPO term]
- Chronic diarrhea [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Esophagitis [HPO term]
- Hepatomegaly [HPO term]
- Leukocytosis [HPO term]
- Lymphocytosis [HPO term]
- Osteomyelitis [HPO term]
- Partial absence of specific antibody response to tetanus vaccine [HPO term]
- Persistent CMV viremia [HPO term]
- Pneumonia [HPO term]
- Recurrent fever [HPO term]
- Recurrent oral herpes [HPO term]
- Sclerosing cholangitis [HPO term]
- Thrombocytosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]