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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;   RDO:0003050
 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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          Familial Hemophagocytic Lymphohistiocytoses 32
            familial hemophagocytic lymphohistiocytosis 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        immune system disease 2927
          lymphatic system disease 1097
            histiocytosis 60
              non-Langerhans-cell histiocytosis 53
                hemophagocytic lymphohistiocytosis 39
                  Familial Hemophagocytic Lymphohistiocytoses 32
                    familial hemophagocytic lymphohistiocytosis 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.