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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 congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (DO)
Synonyms:exact_synonym: HLHS;   left heart hypoplasia syndrome
 narrow_synonym: HAND1-RELATED CONDITION
 primary_id: MESH:D018636
 xref: GARD:6739;   ICD10CM:Q23.4;   ICD9CM:746.7;   NCI:C98894;   OMIM:PS241550;   ORDO:2248


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 Capn2 calpain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37663545 NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969 		JBrowse link
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 RGD 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:21519287 PMID:25741868 PMID:28492532 NCBI chr10:42,006,646...42,009,213
Ensembl chr10:42,006,651...42,009,213 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome ClinVar PMID:25741868 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:241550 | OMIM:614435		 CTD
MouseDO		 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:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... 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 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530678 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO ClinVar Annotator: match by term: Hypoplastic left heart syndrome
protein:alternative form:heart (human)		 ClinVar
RGD		 PMID:25741868 PMID:26785492 PMID:27485310 PMID:27670201 PMID:32368696 More... RGD:329848956 NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691 		JBrowse link
G Sap130 Sin3A associated protein 130 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:241550 | OMIM:614435		 CTD
MouseDO		 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 PMID:28492532 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 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
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:12074273 PMID:12798584 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 18969
    syndrome 10889
      hypoplastic left heart syndrome 15
        Hypoplastic Left Heart Syndrome 1 2
        Hypoplastic Left Heart Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Cardiovascular Abnormalities 1548
            congenital heart disease 1349
              hypoplastic left heart syndrome 15
                Hypoplastic Left Heart Syndrome 1 2
                Hypoplastic Left Heart Syndrome 2 1
paths to the root