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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Immunodeficiency 114
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Accession:DOID:9001372 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Caused by homozygous mutation in the SLC19A1 gene on chromosome 21q22.
Synonyms:exact_synonym: IMD114;   Immunodeficiency 114, folate-responsive
 primary_id: OMIM:620603


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Immunodeficiency 114 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 114, folate-responsive OMIM
ClinVar		 PMID:36517554 PMID:36745868 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Immunodeficiency 114 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            Immunodeficiency 114 1
paths to the root