Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hereditary Paraganglioma-Pheochromocytoma Syndromes
go back to main search page
Accession:DOID:9005607 term browser browse the term
Synonyms:primary_id: RDO:9000720
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hereditary Paraganglioma-Pheochromocytoma Syndromes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1459463, PMID:1730412, PMID:7630640, PMID:21685915, PMID:22452945, PMID:23551045, PMID:23666964, PMID:25741868, PMID:26070438, PMID:26269449, PMID:27838885, PMID:27903915, PMID:28152038, PMID:28492532 NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12807974, PMID:17468193, PMID:23342407 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:11423010, PMID:17298551, PMID:17376234, PMID:20484225, PMID:21858060, PMID:22904323, PMID:23666964, PMID:24033266, PMID:25741868, PMID:28384794, PMID:28492532, PMID:28546994, PMID:28724664, PMID:30201732 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:6264239, PMID:6286462, PMID:19628817, PMID:20071235, PMID:21224366, PMID:21348866, PMID:22241717, PMID:22703879, PMID:23666964, PMID:24033266, PMID:24414418, PMID:24712571, PMID:25741868, PMID:26016412, PMID:26096992, PMID:28099933, PMID:28492532 NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:490809, PMID:2308387, PMID:9509062, PMID:11404820, PMID:11897817, PMID:12000816, PMID:12205103, PMID:12213855, PMID:12351569, PMID:12362046, PMID:12364472, PMID:12618761, PMID:12807974, PMID:14500403, PMID:14643060, PMID:14685938, PMID:14715873, PMID:14974914, PMID:14985401, PMID:15235042, PMID:15328326, PMID:15476441, PMID:15883710, PMID:15987702, PMID:15988378, PMID:15989954, PMID:16001332, PMID:16103922, PMID:16288654, PMID:16314641, PMID:16317055, PMID:16322339, PMID:16405730, PMID:16472267, PMID:16912137, PMID:16916404, PMID:16982587, PMID:17102082, PMID:17102083, PMID:17102084, PMID:17143317, PMID:17200167, PMID:17298551, PMID:17308434, PMID:17376234, PMID:17487275, PMID:17538171, PMID:17639058, PMID:17652212, PMID:17667967, PMID:17804857, PMID:17848412, PMID:17884808, PMID:17943698, PMID:18362451, PMID:18382370, PMID:18419787, PMID:18519664, PMID:18551016, PMID:18678321, PMID:18728283, PMID:18840642, PMID:19001511, PMID:19064958, PMID:19075037, PMID:19184535, PMID:19189136, PMID:19215943, PMID:19258401, PMID:19351833, PMID:19368708, PMID:19393419, PMID:19399650, PMID:19411806, PMID:19415531, PMID:19454582, PMID:19522823, PMID:19576851, PMID:19596260, PMID:19694205, PMID:19802898, PMID:19825962, PMID:19927285, PMID:20119652, PMID:20208144, PMID:20213850, PMID:20418362, PMID:20459544, PMID:20503330, PMID:20505258, PMID:20540712, PMID:20583550, PMID:20592014, PMID:20614293, PMID:20923864, PMID:21172883, PMID:21173220, PMID:21348866, PMID:21520333, PMID:21565294, PMID:21820839, PMID:21909610, PMID:21934479, PMID:21979946, PMID:22041710, PMID:22270996, PMID:22429592, PMID:22517554, PMID:22517557, PMID:22703879, PMID:22835832, PMID:22904323, PMID:22995991, PMID:23072324, PMID:23083876, PMID:23175444, PMID:23282968, PMID:23434467, PMID:23512077, PMID:23640968, PMID:23666964, PMID:23797725, PMID:23902947, PMID:23934599, PMID:24033266, PMID:24055113, PMID:24092654, PMID:24102379, PMID:24134185, PMID:24276837, PMID:24395865, PMID:24436918, PMID:24466223, PMID:24509376, PMID:24523625, PMID:24659481, PMID:24728327, PMID:24781345, PMID:24939699, PMID:25025441, PMID:25047027, PMID:25215250, PMID:25298897, PMID:25326637, PMID:25333069, PMID:25371406, PMID:25494863, PMID:25637381, PMID:25683602, PMID:25694510, PMID:25695889, PMID:25736212, PMID:25741868, PMID:25873086, PMID:25972245, PMID:26092435, PMID:26173966, PMID:26198225, PMID:26236513, PMID:26259135, PMID:26273102, PMID:26283294, PMID:26302408, PMID:26332594, PMID:26467025, PMID:26556299, PMID:26642834, PMID:26719882, PMID:26916530, PMID:27171833, PMID:27539324, PMID:27542510, PMID:27549546, PMID:27573198, PMID:27604842, PMID:27785149, PMID:28070496, PMID:28152038, PMID:28284009, PMID:28324028, PMID:28349240, PMID:28374168, PMID:28490599, PMID:28492532, PMID:28503760, PMID:28738844, PMID:28891197, PMID:28944243, PMID:28973655, PMID:29386252, PMID:29951630, PMID:30122763, PMID:30311386, PMID:30352407, PMID:163114641 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:12658451, PMID:12807974, PMID:15989954, PMID:17298551, PMID:17468193, PMID:17667967, PMID:17804857, PMID:17898811, PMID:19351833, PMID:19454582, PMID:21106325, PMID:21173220, PMID:22703879, PMID:22868853, PMID:23083876, PMID:23175444, PMID:23282968, PMID:23342407, PMID:23666964, PMID:24033266, PMID:24102379, PMID:24402737, PMID:24423348, PMID:24466223, PMID:24523625, PMID:24728327, PMID:24758179, PMID:24781345, PMID:25024072, PMID:25394176, PMID:25637381, PMID:25741868, PMID:26173966, PMID:26273102, PMID:26467025, PMID:26492543, PMID:27153395, PMID:27279923, PMID:27700540, PMID:28412079, PMID:28492532, PMID:28819017, PMID:29386252 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:1945482, PMID:9683583, PMID:10657297, PMID:11156372, PMID:11343322, PMID:11391796, PMID:11391798, PMID:11897817, PMID:12000816, PMID:12114404, PMID:12509798, PMID:12612654, PMID:12782822, PMID:12811540, PMID:15066320, PMID:15328326, PMID:15479192, PMID:15531530, PMID:16080474, PMID:16317055, PMID:17102085, PMID:17406045, PMID:17563904, PMID:17576205, PMID:17667967, PMID:17804857, PMID:17973943, PMID:18551016, PMID:18692411, PMID:19075037, PMID:19258401, PMID:19351833, PMID:19454582, PMID:19584903, PMID:19802898, PMID:19825962, PMID:20111059, PMID:20418362, PMID:21348866, PMID:21792967, PMID:21937622, PMID:21945342, PMID:22241717, PMID:22290790, PMID:22382802, PMID:22456618, PMID:22566194, PMID:22829200, PMID:23175444, PMID:23433498, PMID:23666964, PMID:24033266, PMID:24102379, PMID:24367056, PMID:24436918, PMID:24758185, PMID:25014000, PMID:25275255, PMID:25300370, PMID:25326637, PMID:25494863, PMID:25695889, PMID:25720320, PMID:25741136, PMID:25741868, PMID:26008905, PMID:26096992, PMID:26269449, PMID:26467025, PMID:27279923, PMID:28492532, PMID:29386252, PMID:30050099 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes ClinVar PMID:20154675, PMID:20923864, PMID:21156949, PMID:21613359, PMID:22136840, PMID:22419703, PMID:22517554, PMID:22541004, PMID:23666964, PMID:24033266, PMID:24334765, PMID:24694336, PMID:25389632, PMID:25637381, PMID:25741868, PMID:25800244, PMID:26267327, PMID:26269449, PMID:26960314, PMID:28384794, PMID:28458909, PMID:28492532, PMID:28567294, PMID:28855235, PMID:29282712, PMID:29909963, PMID:30877234 NCBI chr 3:119,677,575...119,690,371
Ensembl chr 3:119,677,575...119,690,366
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Hereditary Paraganglioma-Pheochromocytoma Syndromes 8
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                paraganglioma 38
                  Hereditary Paraganglioma-Pheochromocytoma Syndromes 8
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.