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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 Stx11 syntaxin 11 ISO ClinVar Annotator: match by OMIM:603552
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 4
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
OMIM
ClinVar
PMID:15703195 PMID:16582076 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 PMID:24916509 PMID:25741868 PMID:26176172 PMID:28492532 PMID:28750028 PMID:29113160 NCBI chr 1:7,039,160...7,064,870
Ensembl chr 1:7,039,162...7,064,870
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          Familial Hemophagocytic Lymphohistiocytoses 32
            familial hemophagocytic lymphohistiocytosis 4 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          lymphatic system disease 1102
            histiocytosis 60
              non-Langerhans-cell histiocytosis 53
                hemophagocytic lymphohistiocytosis 39
                  Familial Hemophagocytic Lymphohistiocytoses 32
                    familial hemophagocytic lymphohistiocytosis 4 1
paths to the root