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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:198,114,514...198,120,061
Ensembl chr 1:198,112,245...198,120,061
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        Fanconi-like syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          allergic disease 569
            Delayed Hypersensitivity 178
              Fanconi-like syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.