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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 spinocerebellar tracts
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Accession:HP:0003133 term browser browse the term
Definition:An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.
Synonyms:xref: UMLS:C4025647



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Abnormality of the spinocerebellar tracts 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 RNASEH1 ribonuclease H1 IAGP HPO ORPHA:329336 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:329336 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
Late-onset spinocerebellar degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO MIM:230450 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
JBrowse link
Spinocerebellar tract degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN1 ataxin 1 IAGP HPO MIM:164400 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491
JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:183090 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:33574 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
JBrowse link
G GJB1 gap junction protein beta 1 IAGP HPO ORPHA:1175 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312920 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta IAGP HPO ORPHA:412066 NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650
JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP HPO MIM:617916 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261
JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP HPO ORPHA:94124 NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764
JBrowse link
Spinocerebellar tract disease in lower limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73897
    Phenotypic abnormality 73592
      Abnormality of the nervous system 28560
        Abnormal nervous system morphology 5270
          Morphological central nervous system abnormality 5155
            Abnormal spinal cord morphology 317
              Abnormality of the spinocerebellar tracts 12
                Spinocerebellar tract degeneration + 10
paths to the root