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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:hypoplastic left heart syndrome
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Accession:DOID:9955 term browser browse the term
Definition:A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
Synonyms:exact_synonym: HLHS;   Left Heart Hypoplasia Syndrome
 primary_id: MESH:D018636
 alt_id: RDO:0007225
 xref: GARD:6739;   ICD10CM:Q23.4;   ICD9CM:746.7;   NCI:C98894;   OMIM:PS241550;   ORDO:2248
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypoplastic left heart syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:interatrial septum (human) RGD PMID:18344372 RGD:11561899 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11470490 RGD:1582668 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Hand1 heart and neural crest derivatives expressed 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar PMID:28492532 NCBI chr10:42,006,646...42,009,213
Ensembl chr10:42,006,651...42,009,213
JBrowse link
G Myh7 myosin heavy chain 7 ISO RGD PMID:27789736 RGD:12798513 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar PMID:24728327 PMID:28492532 PMID:30511478 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Pcdha13 protocadherin alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678
G Pcdha9 protocadherin alpha 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678
G Sap130 Sin3A associated protein 130 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678 NCBI chr18:23,244,337...23,345,368
Ensembl chr18:23,267,256...23,345,359
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar PMID:28492532 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
JBrowse link
Hypoplastic Left Heart Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 ClinVar PMID:25741868 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 OMIM
ClinVar
PMID:11470490 PMID:15192806 PMID:18079109 PMID:21215473 PMID:22090377 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Hand1 heart and neural crest derivatives expressed 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 ClinVar PMID:28492532 NCBI chr10:42,006,646...42,009,213
Ensembl chr10:42,006,651...42,009,213
JBrowse link
Hypoplastic Left Heart Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 OMIM
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      hypoplastic left heart syndrome 12
        Hypoplastic Left Heart Syndrome 1 3
        Hypoplastic Left Heart Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Cardiovascular Abnormalities 1138
            congenital heart disease 1080
              hypoplastic left heart syndrome 12
                Hypoplastic Left Heart Syndrome 1 3
                Hypoplastic Left Heart Syndrome 2 1
paths to the root