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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal cardiomyocyte morphology
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Accession:HP:0031331 term browser browse the term
Definition:Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.
Synonyms:exact_synonym: Abnormal cardiac muscle cell morphology


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Abnormal cardiomyocyte morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
Cardiomyocyte hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO MIM:613424 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO MIM:612158 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ALPK3 alpha kinase 3 IAGP HPO MIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G DOLK dolichol kinase IAGP HPO ORPHA:91131 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DSP desmoplakin IAGP HPO MIM:605676 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO MIM:613507 ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G KLHL24 kelch like family member 24 IAGP HPO MIM:620236 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO MIM:611880 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G VCL vinculin IAGP HPO MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
Cardiomyocyte mitochondrial proliferation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:423 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G COA5 cytochrome c oxidase assembly factor 5 IAGP HPO MIM:616500 NCBI chr 2:98,599,314...98,608,512
Ensembl chr 2:98,599,314...98,608,515 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:423 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Myocardial sarcomeric disarray term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD2 leiomodin 2 IAGP HPO MIM:619897 NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO MIM:612422 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
Perinuclear cardiomyocyte vacuolization term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL3L ribosomal protein L3 like IAGP HPO MIM:619371 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormal cellular phenotype 1013
        Abnormal cell morphology 46
          Abnormal cardiomyocyte morphology 16
            Abnormal cardiomyocyte connexin43 staining 0
            Abnormal cardiomyocyte dystrophin staining 0
            Abnormal cardiomyocyte mitochondrial morphology + 0
            Abnormal cardiomyocyte plakoglobin staining 0
            Cardiomyocyte degeneration 0
            Cardiomyocyte hypertrophy 9
            Cardiomyocyte inclusion bodies + 0
            Cardiomyocyte mitochondrial proliferation 3
            Myocardial sarcomeric disarray 2
            Perinuclear cardiomyocyte vacuolization 1
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the cardiovascular system 12026
        Abnormal cardiovascular system morphology 7018
          Abnormal heart morphology 2101
            Abnormal cardiomyocyte morphology 16
              Abnormal cardiomyocyte connexin43 staining 0
              Abnormal cardiomyocyte dystrophin staining 0
              Abnormal cardiomyocyte mitochondrial morphology + 0
              Abnormal cardiomyocyte plakoglobin staining 0
              Cardiomyocyte degeneration 0
              Cardiomyocyte hypertrophy 9
              Cardiomyocyte inclusion bodies + 0
              Cardiomyocyte mitochondrial proliferation 3
              Myocardial sarcomeric disarray 2
              Perinuclear cardiomyocyte vacuolization 1
paths to the root