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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:systolic heart failure
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Accession:DOID:9651 term browser browse the term
Definition:Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying.
Synonyms:exact_synonym: Systolic Heart Failures
 primary_id: MESH:D054143;   RDO:0007661
 xref: ICD10CM:I50.20;   ICD9CM:428.2
For additional species annotation, visit the Alliance of Genome Resources.


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systolic heart failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Heart failure, systolic ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Bmp10 bone morphogenetic protein 10 ISO CTD Direct Evidence: therapeutic CTD PMID:31712309 NCBI chr 4:119,224,906...119,230,534
Ensembl chr 4:119,225,040...119,230,728
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Systolic heart failure ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A disease_progression ISO protein:increased expression:serum: RGD PMID:23564583 RGD:7257646 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Nppb natriuretic peptide B ISO associated with Renal Insufficiency;protein:increased expression:plasma: RGD PMID:23725445, PMID:23122795 RGD:7246908, RGD:7247627 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Heart failure, systolic ClinVar PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        heart disease 2673
          congestive heart failure 384
            systolic heart failure 6
paths to the root