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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hemophagocytic lymphohistiocytosis 2
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Accession:DOID:0110922 term browser browse the term
Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: FHL2;   HLH2;   HPLH2
 related_synonym: familial hemophagocytic lymphohistiocytosis 2, susceptibility to
 primary_id: MESH:C537250
 alt_id: OMIM:603553;   RDO:0003048
 xref: GARD:9922
For additional species annotation, visit the Alliance of Genome Resources.


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familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lifr LIF receptor subunit alpha JBrowse link 2 56,424,910 56,489,346 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482809
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          Familial Hemophagocytic Lymphohistiocytoses 5
            familial hemophagocytic lymphohistiocytosis 2 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      Immune & Inflammatory Diseases 3091
        immune system disease 2518
          lymphatic system disease 870
            histiocytosis 27
              non-Langerhans-cell histiocytosis 26
                hemophagocytic lymphohistiocytosis 15
                  Familial Hemophagocytic Lymphohistiocytoses 5
                    familial hemophagocytic lymphohistiocytosis 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.