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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 the PRF1 gene 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: MIM:603553
 xref: GARD:9922



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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 chr20:29,922,260...29,942,922
Ensembl chr20:29,922,260...29,942,922
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 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,911,258...29,919,659
Ensembl chr20:29,911,258...29,919,659
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,812,650...29,877,733
Ensembl chr20:29,812,650...29,850,063
JBrowse link
G Prf1 perforin 1 ISO
ISS
DNA:missense mutations, nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism
OMIM:603553
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... RGD:6482809 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          Familial Hemophagocytic Lymphohistiocytoses 42
            familial hemophagocytic lymphohistiocytosis 2 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          lymphatic system disease 1751
            histiocytosis 92
              non-Langerhans-cell histiocytosis 84
                hemophagocytic lymphohistiocytosis 54
                  Familial Hemophagocytic Lymphohistiocytoses 42
                    familial hemophagocytic lymphohistiocytosis 2 6
paths to the root