Immunodeficiency 75 with lymphoproliferation

Preferred Label : Immunodeficiency 75 with lymphoproliferation;

Symbol : IMD75;

Type : Phenotype, molecular basis known;

Prefixed ID : #619126;

Details

Origin ID

619126;

UMLS CUI

C5436860;

Genes related to phenotype
- Tet methylcytosine dioxygenase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Decreased FasL-mediated apoptosis [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Follicular hyperplasia [HPO term]
- Hepatosplenomegaly [HPO term]
- Infantile onset [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoma [HPO term]
- Moderate global developmental delay [HPO term]
- Persistent EBV viremia [HPO term]
- Recurrent respiratory infections [HPO term]
ORDO concept(s)
- Lymphoproliferative disease associated with primary immune disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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