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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:Enlarged cisterna magna
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Accession:HP:0002280 term browser browse the term
Definition:Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
Comment:Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture.
Synonyms:exact_synonym: Large cisterna magna
 related_synonym: Mega cisterna magna
 xref: UMLS:C1853377


show annotations for term's descendants           Sort by:
Enlarged cisterna magna term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO ORPHA:26793 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO OMIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447753 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP HPO ORPHA:3006 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 IAGP HPO OMIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO OMIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Mega cisterna magna ClinVar PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CDH2 cadherin 2 IAGP HPO OMIM:618929 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO OMIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP HPO OMIM:618672 NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO OMIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO OMIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO OMIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO OMIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO OMIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO OMIM:616081 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO ORPHA:447753 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO OMIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO OMIM:601631 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619751 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO OMIM:616212 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO OMIM:616546 ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO OMIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO OMIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP HPO OMIM:619170 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO OMIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO OMIM:117550 ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:300804 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO OMIM:300486 ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO OMIM:618067 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO OMIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO OMIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO OMIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLPBP pyridoxal phosphate binding protein IAGP HPO ORPHA:3006 NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP HPO ORPHA:1170 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO ORPHA:468678 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		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 POMK protein O-mannose kinase IAGP HPO OMIM:616094 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:613155 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PRX periaxin IAGP HPO OMIM:614895 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO OMIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO OMIM:617751 ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO OMIM:620208 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO OMIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 IAGP HPO OMIM:620306 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO OMIM:300896 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP HPO OMIM:618973 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO OMIM:617757 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO OMIM:618251 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP HPO OMIM:618606 NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO OMIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of head or neck 3585
        Abnormality of the head 3556
          Abnormal skull morphology 2554
            Abnormal skull base morphology 250
              Abnormal posterior cranial fossa morphology 229
                Enlarged posterior fossa 202
                  Enlarged cisterna magna 59
Path 2
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the musculoskeletal system 4447
        Abnormality of the skeletal system 3683
          Abnormal skeletal morphology 3563
            Abnormal axial skeleton morphology 2857
              Abnormal skull morphology 2554
                Abnormal skull base morphology 250
                  Abnormal posterior cranial fossa morphology 229
                    Enlarged posterior fossa 202
                      Enlarged cisterna magna 59
paths to the root