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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 4
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Accession:DOID:0110924 term browser browse the term
Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)
Synonyms:exact_synonym: FHL4;   HLH4;   HPLH4;   STX11-RELATED CONDITION
 primary_id: MESH:C537252
 alt_id: MIM:603552
 xref: GARD:9929


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familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,706,121...9,720,910
Ensembl chr 1:9,706,094...9,721,706 		JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,385,834...9,398,557
Ensembl chr 1:9,385,830...9,398,677 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,732,641...9,774,479
Ensembl chr 1:9,732,492...9,774,576 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,411,412...9,680,648
Ensembl chr 1:9,418,085...9,680,583 		JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,297,066...9,337,394
Ensembl chr 1:9,330,204...9,337,394 		JBrowse link
G Sf3b5 splicing factor 3b, subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,177,189...9,177,901
Ensembl chr 1:9,177,098...9,177,900 		JBrowse link
G Stx11 syntaxin 11 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:603552
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition 		OMIM
CTD
MouseDO
ClinVar		 PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chr 1:9,111,216...9,140,227
Ensembl chr 1:9,107,796...9,178,455 		JBrowse link
G Zc2hc1b zinc finger, C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr 1:9,357,453...9,385,215
Ensembl chr 1:9,357,453...9,385,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13756
        genetic disease 13374
          Familial Hemophagocytic Lymphohistiocytoses 42
            familial hemophagocytic lymphohistiocytosis 4 8
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      Immune & Inflammatory Diseases 5762
        immune system disease 5076
          lymphatic system disease 1741
            histiocytosis 92
              non-Langerhans-cell histiocytosis 84
                hemophagocytic lymphohistiocytosis 54
                  Familial Hemophagocytic Lymphohistiocytoses 42
                    familial hemophagocytic lymphohistiocytosis 4 8
paths to the root