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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:Agammaglobulinemia 1, Autosomal Recessive
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Accession:DOID:9001819 term browser browse the term
Synonyms:exact_synonym: AGM1;   autosomal recessive agammaglobulinemia due to IGHM defect
 primary_id: OMIM:601495
For additional species annotation, visit the Alliance of Genome Resources.


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Agammaglobulinemia 1, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        lymphoproliferative syndrome 681
          agammaglobulinemia 63
            Agammaglobulinemia 1, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          Immunoproliferative Disorders 690
            lymphoproliferative syndrome 681
              agammaglobulinemia 63
                Agammaglobulinemia 1, Autosomal Recessive 2
paths to the root