immunodeficiency 114 Disease Ontology Browser

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Disease Ontology Browser

immunodeficiency 114 (DOID:0061080)
Alliance: disease page
Synonyms: folate-responsive immunodeficiency 114
Alt IDs: OMIM:620603
Definition: A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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