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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 2
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Accession:DOID:0110922 term browser browse the term
Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: FHL2;   HLH2;   HPLH2
 related_synonym: familial hemophagocytic lymphohistiocytosis 2, susceptibility to
 primary_id: MESH:C537250
 alt_id: OMIM:603553;   RDO:0003048
 xref: GARD:9922
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: RGD PMID:26518437, PMID:26518437 RGD:11343232, RGD:11343232 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:14740318, PMID:28492532 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link
G Prf1 perforin 1 ISO DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar Annotator: match by OMIM:603553
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
ClinVar
OMIM
PMID:7851014, PMID:10583959, PMID:11179007, PMID:11565555, PMID:11756153, PMID:12060139, PMID:12229880, PMID:12599189, PMID:12716377, PMID:14739222, PMID:14757862, PMID:15077010, PMID:15205266, PMID:15342365, PMID:15365097, PMID:15459303, PMID:15609274, PMID:15632205, PMID:15659737, PMID:15728124, PMID:15755277, PMID:15755897, PMID:15924140, PMID:16278825, PMID:16374518, PMID:16720836, PMID:16860143, PMID:16937360, PMID:17266056, PMID:17311987, PMID:17475905, PMID:17477373, PMID:17525286, PMID:17674359, PMID:17873118, PMID:18074390, PMID:18190960, PMID:18496551, PMID:18710388, PMID:19487666, PMID:19595804, PMID:20092789, PMID:20638125, PMID:21152410, PMID:21157294, PMID:21234777, PMID:21303357, PMID:21674762, PMID:21881043, PMID:21931115, PMID:21959744, PMID:22437823, PMID:22970278, PMID:23073044, PMID:23255033, PMID:23264592, PMID:23287865, PMID:23443029, PMID:23592409, PMID:23690113, PMID:24033266, PMID:24215106, PMID:24309606, PMID:24744671, PMID:24916509, PMID:25215106, PMID:25233452, PMID:25297583, PMID:25312756, PMID:25326635, PMID:25326637, PMID:25354579, PMID:25741868, PMID:25742477, PMID:25845254, PMID:25937001, PMID:26184781, PMID:26221353, PMID:26342526, PMID:26450956, PMID:26605207, PMID:26684649, PMID:26903364, PMID:27271812, PMID:27290639, PMID:27391055, PMID:27535533, PMID:28353193, PMID:28492532, PMID:29113160, PMID:29357941, PMID:29665027, PMID:30697212, PMID:31395954, PMID:32963807, PMID:12060139 RGD:6482809 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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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 2 4
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 2 4
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.