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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, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
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Accession:DOID:9009072 term browser browse the term
Definition:A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)
Synonyms:exact_synonym: IMDDHH
 primary_id: OMIM:617744
For additional species annotation, visit the Alliance of Genome Resources.


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IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ClinVar
OMIM
PMID:26619011, PMID:29018201 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Disabilities 692
                  IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.