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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:Adrenocortical cytomegaly
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Accession:HP:0008186 term browser browse the term
Definition:The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.
Comment:This feature is common in Beckwith Wiedemann syndrome.
Synonyms:xref: UMLS:C1851720


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Adrenocortical cytomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:95702 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the endocrine system 3115
        Abnormal endocrine morphology 181
          Abnormal adrenal morphology 181
            Adrenocortical cytomegaly 6
paths to the root