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DO Term : immunodeficiency 42 [DOID:0111940] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.

synonyms:
OMIM:616622,
autosomal recessive primary immunodeficiency due to RORC mutation,
616622,
autosomal recessive MSMD due to complete RORgamma receptor defiency,
IMD42,
ORDO:477857,
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

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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