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ONTOLOGY REPORT - ANNOTATIONS
Term:congenital nystagmus
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Accession:DOID:9649 term browser browse the term
Definition:Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Synonyms:exact_synonym: infantile nystagmus
 primary_id: MESH:D020417
 alt_id: RDO:0002942
 xref: ICD10CM:H55.01;   ICD9CM:379.51;   OMIM:PS310700;   ORDO:651
For additional species annotation, visit the Alliance of Genome Resources.

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congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552281
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
RGD:11554173
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:8554872
RGD:11554173
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kidins220 kinase D-interacting substrate 220 JBrowse link 6 44,225,142 44,322,938 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        Infant, Newborn, Diseases 417
          congenital nystagmus 13
            Amyotrophic Dystonic Paraplegia 0
            Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
            Brachydactyly-Nystagmus-Cerebellar Ataxia 0
            Foveal Hypoplasia + 6
            Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
            Isolated Microphthalmia with Cataract 2 1
            Mental Retardation Mietens Weber Type 0
            Nystagmus 1, Congenital, X- Linked 1
            Nystagmus 2, Congenital, Autosomal Dominant 0
            Nystagmus 3, Congenital, Autosomal Dominant 0
            Nystagmus 4, Congenital, Autosomal Dominant 0
            Nystagmus 5, Congenital, X-Linked 0
            Nystagmus 5, Infantile Periodic Alternating 0
            Nystagmus 6, Congenital, X-Linked 1
            Nystagmus 7, Congenital, Autosomal Dominant 0
            Nystagmus, Congenital Motor, Autosomal Recessive 0
            O'Donnell Pappas Syndrome 2
            SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            cranial nerve disease 369
              ocular motility disease 114
                pathologic nystagmus 33
                  congenital nystagmus 13
                    Amyotrophic Dystonic Paraplegia 0
                    Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                    Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                    Foveal Hypoplasia + 6
                    Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
                    Isolated Microphthalmia with Cataract 2 1
                    Mental Retardation Mietens Weber Type 0
                    Nystagmus 1, Congenital, X- Linked 1
                    Nystagmus 2, Congenital, Autosomal Dominant 0
                    Nystagmus 3, Congenital, Autosomal Dominant 0
                    Nystagmus 4, Congenital, Autosomal Dominant 0
                    Nystagmus 5, Congenital, X-Linked 0
                    Nystagmus 5, Infantile Periodic Alternating 0
                    Nystagmus 6, Congenital, X-Linked 1
                    Nystagmus 7, Congenital, Autosomal Dominant 0
                    Nystagmus, Congenital Motor, Autosomal Recessive 0
                    O'Donnell Pappas Syndrome 2
                    SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
paths to the root

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