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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:Olivopontocerebellar hypoplasia
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Accession:HP:0006955 term browser browse the term
Definition:Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
Synonyms:alt_id: HP:0007168
 xref: UMLS:C1859341


show annotations for term's descendants           Sort by:
Olivopontocerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 IAGP HPO ORPHA:98756 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G LOC112533671 Sharpr-MPRA regulatory region 12010 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:18414213 NCBI chr17:75,516,308...75,516,766 JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 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 ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar
HPO		 PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... OMIM:610204 ORPHA:166063 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21569
    Phenotypic abnormality 21559
      Abnormality of the nervous system 15609
        Abnormal nervous system morphology 4240
          Morphological central nervous system abnormality 4129
            Aplasia/Hypoplasia involving the central nervous system 2067
              Hypoplasia of the pons 93
                Olivopontocerebellar hypoplasia 16
Path 2
Term Annotations click to browse term
  Human phenotype 21569
    Phenotypic abnormality 21559
      Abnormality of the nervous system 15609
        Abnormal nervous system morphology 4240
          Morphological central nervous system abnormality 4129
            Abnormal brain morphology 3025
              Abnormal hindbrain morphology 1107
                Abnormal metencephalon morphology 1107
                  Abnormal cerebellum morphology 1100
                    Aplasia/Hypoplasia of the cerebellum 623
                      Cerebellar hypoplasia 494
                        Olivopontocerebellar hypoplasia 16
paths to the root