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DO Term : combined cellular and humoral immune defects with granulomas [DOID:0112253] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.

synonyms:
CID due to RAG 1/2 deficiency,
combined immunodeficiency with skin granulomas,
combined immunodeficiency with granulomatosis,
233650,
MESH:C567115,
CCHIDG,
combined immunodeficiency due to RAG 1/2 deficiency,
GARD:13587,
ORDO:157949,
OMIM:233650

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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