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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 STX11 on chromosome 6q24.2. (DO)
Synonyms:exact_synonym: FHL4;   HLH4;   HPLH4
 primary_id: MESH:C537252
 alt_id: OMIM:603552
 xref: GARD:9929
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr 1:7,885,986...7,900,777
Ensembl chr 1:7,885,918...7,900,776
JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228
JBrowse link
G Sf3b5 splicing factor 3b, subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:7,357,040...7,357,752
Ensembl chr 1:7,350,731...7,357,839
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 OMIM
ClinVar
PMID:15703195 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 More... NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
JBrowse link
G Zc2hc1b zinc finger, C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:7,537,291...7,565,054
Ensembl chr 1:7,537,291...7,565,054
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          Familial Hemophagocytic Lymphohistiocytoses 42
            familial hemophagocytic lymphohistiocytosis 4 8
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      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 4 8
paths to the root