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Fanconi-like syndrome - Ontology Report - Rat Genome Database

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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 N Slx1a SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chrNW_004624782:13,094,330...13,096,573 JBrowse link
G G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr 5:26,475,234...26,478,844 JBrowse link
G P SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr 3:18,346,501...18,349,509 JBrowse link
G S Slx1a SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chrNW_004936501:12,332,135...12,335,081 JBrowse link
G D SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr 6:18,171,190...18,174,577 JBrowse link
G B SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO
G C Slx1a SLX1 homolog A, structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chrNW_004955493:6,797,913...6,800,555 JBrowse link
G H SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr16:30,193,843...30,197,566
Ensembl chr16:30,193,875...30,197,566 		JBrowse link
G R Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr 1:190,716,759...190,722,307
Ensembl chr 1:181,283,921...181,291,775 		JBrowse link
G M Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) IAGP OMIM:227850 MouseDO NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956 		JBrowse link
G N Slx4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chrNW_004624824:1,398,258...1,423,652
Ensembl chrNW_004624824:1,395,434...1,420,622 		JBrowse link
G G SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr 5:3,281,468...3,308,296 JBrowse link
G P SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168 		JBrowse link
G S Slx4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600 		JBrowse link
G D SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
G B SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842 		JBrowse link
G C Slx4 SLX4 structure-specific endonuclease subunit ISO OMIM:227850 MouseDO NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		JBrowse link
G R Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:12,032,131...12,055,685
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G M Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) IAGP OMIM:227850 MouseDO NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G H SLX4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      primary immunodeficiency disease 53864
        Fanconi-like syndrome 20
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            skin disease 49602
              Skin Neoplasms 6670
                Fanconi-like syndrome 20
paths to the root