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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 72
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Accession:DOID:0112015 term browser browse the term
Definition:A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2. (DO)
Synonyms:exact_synonym: IMD72;   immunodeficiency 72 with autoinflammation
 primary_id: OMIM:618982
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nckap1l NCK associated protein 1 like ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION OMIM
ClinVar
PMID:32647003 NCBI chr 7:145,068,239...145,113,507
Ensembl chr 7:145,068,286...145,113,507
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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
        combined immunodeficiency 147
          immunodeficiency 72 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 72 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.