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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:familial hemophagocytic lymphohistiocytosis 3
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Accession:DOID:0110923 term browser browse the term
Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: FHL3;   HLH3;   HPLH3
 primary_id: MESH:C537251
 alt_id: OMIM:608898
 xref: GARD:9928
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          Familial Hemophagocytic Lymphohistiocytoses 42
            familial hemophagocytic lymphohistiocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Immune & Inflammatory Diseases 5187
        immune system disease 4499
          lymphatic system disease 1504
            histiocytosis 73
              non-Langerhans-cell histiocytosis 65
                hemophagocytic lymphohistiocytosis 51
                  Familial Hemophagocytic Lymphohistiocytoses 42
                    familial hemophagocytic lymphohistiocytosis 3 1
paths to the root