Send us a Message



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

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:Abnormal globus pallidus morphology
go back to main search page
Accession:HP:0002453 term browser browse the term
Definition:An abnormality of the globus pallidus.
Comment:The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule.
Synonyms:alt_id: HP:0007040
 xref: UMLS:C4025706



show annotations for term's descendants           Sort by:
Abnormal globus pallidus morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO ORPHA:320411 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO OMIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO OMIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
JBrowse link
Eye of the tiger anomaly of globus pallidus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404
JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G NUDT2 nudix hydrolase 2 IAGP HPO OMIM:619844 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO OMIM:234200 ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO OMIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394
JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO OMIM:300894 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
JBrowse link
Globus pallidus calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGO1 argonaute RISC component 1 IAGP HPO OMIM:620292 NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532
JBrowse link
Globus pallidus hypointensity on susceptibility-weighted imaging term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO OMIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171
JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO OMIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732
JBrowse link
Pallidal degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system morphology 4218
          Morphological central nervous system abnormality 4108
            Abnormal brain morphology 3004
              Abnormal forebrain morphology 2324
                Abnormal cerebral morphology 2229
                  Abnormal cerebral subcortex morphology 1220
                    Abnormal basal ganglia morphology 203
                      Abnormal globus pallidus morphology 25
                        Eye of the tiger anomaly of globus pallidus 10
                        Globus pallidus calcification 1
                        Globus pallidus hypointensity on susceptibility-weighted imaging 4
                        Pallidal degeneration 1
paths to the root