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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:Paraganglioma
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Accession:HP:0002668 term browser browse the term
Definition:A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Synonyms:exact_synonym: Carotid body tumors;   Carotid body tumours;   Paragangliomas;   Vagus Nerve Paraganglioma
 alt_id: HP:0002670;   HP:0003004
 xref: EFO:1000621;   NCI:C3308;   SNOMEDCT_US:127027008;   SNOMEDCT_US:253029009;   SNOMEDCT_US:302833002;   SNOMEDCT_US:72787006;   SNOMEDCT_US:803009;   UMLS:C0030421


show annotations for term's descendants           Sort by:
Paraganglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:100075 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:193300 ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO MIM:618475 ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Paraganglioma HPO
ClinVar		 PMID:16199547 PMID:22974104 PMID:24781757 PMID:25741868 PMID:26556299 More... MIM:614165 ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Paraganglioma ClinVar
HPO		 PMID:15989954 PMID:18551016 PMID:18728283 PMID:19454582 PMID:19576851 More... MIM:115310 MIM:606864 ORPHA:276621 ORPHA:29072 ORPHA:97286 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 MIM:606864 ORPHA:29072 ORPHA:97286 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Paraganglioma HPO
ClinVar		 PMID:10657297 PMID:11391796 PMID:11897817 PMID:15479192 PMID:19454582 More... MIM:606864 ORPHA:100093 ORPHA:276621 ORPHA:29072 ORPHA:97286 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO MIM:618464 ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:193300 ORPHA:276621 ORPHA:29072 ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Carotid paraganglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Chemodectoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:115310 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Glomus jugular tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:115310 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Glomus tympanicum paraganglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Paraganglioma of head and neck term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:115310 ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 ORPHA:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Vagal paraganglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the endocrine system 3115
        Neoplasm of the endocrine system 1205
          Neuroendocrine neoplasm 87
            Paraganglioma 19
              Chemodectoma 4
              Paraganglioma of head and neck + 17
              Pulmonary paraglioma 0
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the nervous system 19758
        Abnormal nervous system morphology 4600
          Abnormal peripheral nervous system morphology 466
            Neoplasm of the peripheral nervous system 121
              Neuroendocrine neoplasm 87
                Paraganglioma 19
                  Chemodectoma 4
                  Paraganglioma of head and neck + 17
                  Pulmonary paraglioma 0
paths to the root