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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:xref: MESH:C536855;   MIM:227850;   MONDO:0009217


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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 19145
    syndrome 11406
      primary immunodeficiency disease 4483
        Fanconi-like syndrome 2
Path 2
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7372
            skin disease 4308
              Skin Neoplasms 490
                Fanconi-like syndrome 2
paths to the root