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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 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,379,444...29,400,131
Ensembl chr20:29,382,668...29,399,946 		JBrowse link
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 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		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 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837 		JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858 		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 term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to		 ClinVar
OMIM
RGD		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... RGD:6482809 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          Familial Hemophagocytic Lymphohistiocytoses 42
            familial hemophagocytic lymphohistiocytosis 2 7
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Immune & Inflammatory Diseases 5187
        immune system disease 4499
          lymphatic system disease 1504
            histiocytosis 73
              non-Langerhans-cell histiocytosis 65
                hemophagocytic lymphohistiocytosis 51
                  Familial Hemophagocytic Lymphohistiocytoses 42
                    familial hemophagocytic lymphohistiocytosis 2 7
paths to the root