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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:Elongated superior cerebellar peduncle
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Accession:HP:0011933 term browser browse the term
Definition:Increased length of the superior cerebellar peduncle.
Synonyms:exact_synonym: Long cerebellar peduncle;   Long cerebellar peduncles
 related_synonym: ELONGATED SUPERIOR CEREBELLAR PEDUNCLES
 xref: UMLS:C3810214;   UMLS:C4021109


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Elongated superior cerebellar peduncle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO OMIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO OMIM:618161 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO OMIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO OMIM:615636 ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP HPO ORPHA:370022 NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO OMIM:609583 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the nervous system 15609
        Abnormal nervous system morphology 4239
          Morphological central nervous system abnormality 4128
            Abnormal brain morphology 3025
              Abnormal brainstem morphology 287
                Abnormal pons morphology 119
                  Abnormal superior cerebellar peduncle morphology 12
                    Elongated superior cerebellar peduncle 10
Path 2
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the nervous system 15609
        Abnormal nervous system morphology 4239
          Morphological central nervous system abnormality 4128
            Abnormal brain morphology 3025
              Abnormal hindbrain morphology 1107
                Abnormal metencephalon morphology 1107
                  Abnormal cerebellum morphology 1100
                    Abnormal cerebellar peduncle morphology 15
                      Abnormal superior cerebellar peduncle morphology 12
                        Elongated superior cerebellar peduncle 10
paths to the root