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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
 xref: GARD:9922
For additional species annotation, visit the Alliance of Genome Resources.

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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:11841437 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: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:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23255033 PMID:23264592 PMID:23287865 PMID:23443029 PMID:23592409 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: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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          Familial Hemophagocytic Lymphohistiocytoses 32
            familial hemophagocytic lymphohistiocytosis 2 4
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Immune & Inflammatory Diseases 3588
        immune system disease 2957
          lymphatic system disease 1103
            histiocytosis 60
              non-Langerhans-cell histiocytosis 53
                hemophagocytic lymphohistiocytosis 39
                  Familial Hemophagocytic Lymphohistiocytoses 32
                    familial hemophagocytic lymphohistiocytosis 2 4
paths to the root