ONTOLOGY REPORT - ANNOTATIONS


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;   OMIM:PS241550
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hypoplastic left heart syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap53 cilia and flagella associated protein 53 JBrowse link 18 70,263,290 70,330,420 RGD:8554872
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:11561899
RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1582668
RGD:11554173
RGD:8554872
G Hand1 heart and neural crest derivatives expressed 1 JBrowse link 10 43,250,729 43,253,296 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:12798513
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:11554173
G Pcdha13 protocadherin alpha 13 JBrowse link 18 30,036,887 30,215,897 RGD:11554173
G Pcdha9 protocadherin alpha 9 JBrowse link 18 30,004,565 30,215,897 RGD:11554173
G Sap130 Sin3A associated protein 130 JBrowse link 18 24,397,523 24,497,831 RGD:11554173
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
G Tbx20 T-box 20 JBrowse link 8 25,849,394 25,904,570 RGD:8554872
Hypoplastic Left Heart Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
G Hand1 heart and neural crest derivatives expressed 1 JBrowse link 10 43,250,729 43,253,296 RGD:8554872
Hypoplastic Left Heart Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      hypoplastic left heart syndrome 11
        Hypoplastic Left Heart Syndrome 1 3
        Hypoplastic Left Heart Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              hypoplastic left heart syndrome 11
                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.