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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:Fanconi-like syndrome
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Accession:DOID:0090066 term browser browse the term
Definition:A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. (DO)
Synonyms:primary_id: MESH:C536855
 alt_id: OMIM:227850;   RDO:0002566


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Fanconi-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      primary immunodeficiency disease 4128
        Fanconi-like syndrome 2
Path 2
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10746
        Neurologic Manifestations 9984
          sensory system disease 6884
            skin disease 3904
              Skin Neoplasms 394
                Fanconi-like syndrome 2
paths to the root