Immunodeficiency 76 - CISMeF

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CISMeF

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Immunodeficiency 76OMIM Phenotype

Preferred Label : Immunodeficiency 76;

Symbol : IMD76;

Type : Phenotype, molecular basis known;

Prefixed ID : #619164;

Details

Origin ID

619164;

UMLS CUI

C5543004;

Genes related to phenotype
- Fch domain only protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- B-cell lymphoma [HPO term]
- Childhood onset [HPO term]
- Chronic diarrhea [HPO term]
- Colitis [HPO term]
- Death in childhood [HPO term]
- Growth delay [HPO term]
- Infantile onset [HPO term]
- Lymphadenopathy [HPO term]
- Lymphopenia [HPO term]
- Recurrent bronchiolitis [HPO term]
- Recurrent pneumonia [HPO term]
- Splenomegaly [HPO term]
- T lymphocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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04/06/2025

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