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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 anemia complementation group P
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Accession:DOID:0111092 term browser browse the term
Definition:A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: FANCP
 primary_id: OMIM:613951



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    physical disorder 4937
      congenital hypoplastic anemia 237
        Fanconi anemia 83
          Fanconi anemia complementation group P 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          bone marrow disease 774
            Bone Marrow Failure Disorders 311
              aplastic anemia 285
                congenital hypoplastic anemia 237
                  Fanconi anemia 83
                    Fanconi anemia complementation group P 1
paths to the root