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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 chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar PMID:12533788, PMID:15087378, PMID:15095295, PMID:15492928, PMID:15810020, PMID:17085682, PMID:19030985, PMID:21876083, PMID:23296741, PMID:24713400, PMID:25583358, PMID:25741868, PMID:26446916, PMID:26467025, PMID:26822949, PMID:26845104, PMID:27153395, PMID:27616075, PMID:27751358, PMID:28211887, PMID:28492532, PMID:28727877, PMID:28802053, PMID:29902706, PMID:29958926, PMID:30311386, PMID:31843900 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:interatrial septum (human) RGD PMID:18344372 RGD:11561899 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11470490 RGD:1582668 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 chr10:43,250,729...43,253,296
Ensembl chr10:43,250,745...43,253,296
JBrowse link
G Myh7 myosin heavy chain 7 ISO RGD PMID:27789736 RGD:12798513 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pcdha13 protocadherin alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678 NCBI chr18:30,036,887...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Pcdha9 protocadherin alpha 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678 NCBI chr18:30,004,565...30,215,897
Ensembl chr18:29,987,206...30,215,897
JBrowse link
G Sap130 Sin3A associated protein 130 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678 NCBI chr18:24,397,523...24,497,831
Ensembl chr18:24,397,369...24,497,832
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
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 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:25741868, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 chr10:43,250,729...43,253,296
Ensembl chr10:43,250,745...43,253,296
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, PMID:17891434, PMID:19073351, PMID:19464101, PMID:19533775, PMID:19948535, PMID:20456451, PMID:20807224, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      hypoplastic left heart syndrome 13
        Hypoplastic Left Heart Syndrome 1 3
        Hypoplastic Left Heart Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1128
            congenital heart disease 1073
              hypoplastic left heart syndrome 13
                Hypoplastic Left Heart Syndrome 1 3
                Hypoplastic Left Heart Syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.