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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:Abnormality of the falx cerebri
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Accession:HP:0010653 term browser browse the term
Definition:An abnormality of the Falx cerebri.
Comment:The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres.
Synonyms:exact_synonym: Abnormality of the cerebral falx
 xref: UMLS:C4021247



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Aplasia of the falx cerebri term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 IAGP OMIM:618494 HPO NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:93924 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GAS1 growth arrest specific 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G NODAL nodal growth differentiation factor IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G PLCH1 phospholipase C eta 1 IAGP ORPHA:93925 HPO NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
JBrowse link
G PTCH1 patched 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:220386 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G STAG2 stromal antigen 2 IAGP ORPHA:220386 HPO NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STIL STIL centriolar assembly protein IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Calcification of falx cerebri term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP OMIM:177850 HPO NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:154780 HPO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G PTCH1 patched 1 IAGP OMIM:109400 ORPHA:77301 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the nervous system 10258
        Abnormal nervous system morphology 4068
          Morphological central nervous system abnormality 3919
            Abnormal meningeal morphology 190
              Abnormal dura mater morphology 26
                Abnormality of the falx cerebri 25
                  Aplasia of the falx cerebri 20
                  Calcification of falx cerebri 6
paths to the root