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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 4
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Accession:DOID:0110924 term browser browse the term
Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)
Synonyms:exact_synonym: FHL4;   HLH4;   HPLH4
 primary_id: MESH:C537252
 alt_id: OMIM:603552
 xref: GARD:9929


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familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,896,629...16,912,406
Ensembl chrNW_004955436:16,896,629...16,915,083
JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,580,412...16,593,093
Ensembl chrNW_004955436:16,580,704...16,592,044
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,918,259...16,956,242
Ensembl chrNW_004955436:16,917,008...16,956,242
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,607,279...16,690,412
Ensembl chrNW_004955436:16,619,552...16,694,053
JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,452,797...16,511,872
Ensembl chrNW_004955436:16,423,216...16,510,799
JBrowse link
G Sf3b5 splicing factor 3b subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,380,412...16,381,373
Ensembl chrNW_004955436:16,380,549...16,380,809
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 OMIM
ClinVar
PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chrNW_004955436:16,303,169...16,327,854
Ensembl chrNW_004955436:16,303,189...16,327,854
JBrowse link
G Zc2hc1b zinc finger C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chrNW_004955436:16,515,985...16,579,723
Ensembl chrNW_004955436:16,515,947...16,579,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          Familial Hemophagocytic Lymphohistiocytoses 42
            familial hemophagocytic lymphohistiocytosis 4 8
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      Immune & Inflammatory Diseases 4629
        immune system disease 4029
          lymphatic system disease 1493
            histiocytosis 86
              non-Langerhans-cell histiocytosis 78
                hemophagocytic lymphohistiocytosis 53
                  Familial Hemophagocytic Lymphohistiocytoses 42
                    familial hemophagocytic lymphohistiocytosis 4 8
paths to the root