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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 fibroelastosis
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Accession:HP:0001706 term browser browse the term
Definition:Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
Synonyms:xref: SNOMEDCT_US:65457005;   UMLS:C0014117


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Endocardial fibroelastosis 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 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 CSRP3 cysteine and glycine rich protein 3 IAGP HPO MIM:607482 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Endocardial fibroelastosis ClinVar PMID:25741868 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:108770 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607014 ORPHA:93473 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Endocardial fibroelastosis ClinVar PMID:25741868 NCBI chr  X:154,411,526...154,412,065 JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP HPO MIM:619313 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO MIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Endocardial fibroelastosis ClinVar
HPO		 PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... MIM:302060 ORPHA:111 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		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 fibroelastosis 10
paths to the root