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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:Abducens palsy
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Accession:HP:0006897 term browser browse the term
Definition:Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.
Comment:Affected individuals may experience diplopia as well as esotropia or convergent strabismus.
Synonyms:exact_synonym: Abducens nerve palsy;   Abducens nerve paralysis;   Abducens nerve paresis;   Cranial nerve VI palsy;   Lateral rectus muscle denervation paresis;   Sixth nerve palsy
 alt_id: HP:0011349
 xref: MESH:C564661;   MESH:D020434;   SNOMEDCT_US:398760006;   SNOMEDCT_US:398925009;   SNOMEDCT_US:398963001;   UMLS:C0271355


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Abducens palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO OMIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G CCDC174 coiled-coil domain containing 174 IAGP HPO OMIM:616816 NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO OMIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO OMIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507 		JBrowse link
G PSAP prosaposin IAGP HPO OMIM:610539 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO ORPHA:397973 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:140976 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:181405 OMIM:606071 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
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Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the nervous system 15609
        Abnormal nervous system physiology 14500
          Abnormal cranial nerve physiology 287
            Cranial nerve paralysis 284
              Abducens palsy 12
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