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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:B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
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Accession:DOID:9007742 term browser browse the term
Synonyms:exact_synonym: BILU Syndrome;   Hoffman Syndrome
 primary_id: MESH:C563745
 alt_id: OMIM:609296
For additional species annotation, visit the Alliance of Genome Resources.



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B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations OMIM
ClinVar
PMID:11152140 PMID:11476068 PMID:15521984 PMID:21204224 PMID:22002929 More... NCBI chr15:9,051,661...9,111,220
Ensembl chr15:9,051,341...9,112,085
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      primary immunodeficiency disease 3717
        B cell deficiency 277
          B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Immune & Inflammatory Diseases 5045
        immune system disease 4371
          primary immunodeficiency disease 3717
            B cell deficiency 277
              B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
paths to the root