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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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familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc13d unc-13 homolog D susceptibility ISO DNA:deletions, insertion, snps:exons, intron:multiple (human)
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3
OMIM
ClinVar
PMID:10459864 PMID:14622600 PMID:16278825 PMID:16825436 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21600143 PMID:21653941 PMID:21674762 PMID:21755595 PMID:21881043 PMID:21931115 PMID:23180437 PMID:23560006 PMID:23669735 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24309606 PMID:24459464 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24916509 PMID:24935083 PMID:25502423 PMID:25553300 PMID:25573973 PMID:25741868 PMID:25901543 PMID:26342526 PMID:26764160 PMID:27123661 PMID:27164702 PMID:27209435 PMID:27896523 PMID:28399723 PMID:28492532 PMID:28848550 PMID:29113160 PMID:29665027, PMID:14622600 RGD:1600451 NCBI chr10:104,613,907...104,628,664
Ensembl chr10:104,613,928...104,628,676
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          Familial Hemophagocytic Lymphohistiocytoses 32
            familial hemophagocytic lymphohistiocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Immune & Inflammatory Diseases 3577
        immune system disease 2948
          lymphatic system disease 1098
            histiocytosis 60
              non-Langerhans-cell histiocytosis 53
                hemophagocytic lymphohistiocytosis 39
                  Familial Hemophagocytic Lymphohistiocytoses 32
                    familial hemophagocytic lymphohistiocytosis 3 1
paths to the root