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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:Endocardial fibrosis
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Accession:HP:0006685 term browser browse the term
Definition:The presence of excessive connective tissue in the endocardium.
Synonyms:exact_synonym: Endomyocardial fibrosis
 alt_id: HP:0005169
 xref: SNOMEDCT_US:398716006;   UMLS:C0553980


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Endocardial fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 LDB3 LIM domain binding 3 IAGP HPO MIM:601493 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G MYL3 myosin light chain 3 IAGP HPO MIM:608751 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO MIM:607685 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO MIM:235550 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the cardiovascular system 14368
        Abnormal cardiovascular system morphology 7916
          Abnormal heart morphology 2118
            Abnormal endocardium morphology 65
              Endocardial fibrosis 6
paths to the root