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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital nystagmus
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Accession:DOID:9649 term browser browse the term
Definition:A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. (DO)
Synonyms:exact_synonym: infantile nystagmus
 primary_id: MESH:D020417
 xref: EFO:0007217;   ICD10CM:H55.01;   ICD9CM:379.51;   OMIM:PS310700;   ORDO:651

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congenital nystagmus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism
OMIM:164100 | OMIM:193003 | OMIM:300589 | OMIM:300814 | OMIM:608345 | OMIM:614826		 CTD
MouseDO		 PMID:23301081 NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Myo7a myosin VIIA ISO associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Pax6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital nystagmus ClinVar PMID:25741868 PMID:28492532 PMID:35348658 NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32971638 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		JBrowse link
autosomal recessive congenital nystagmus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35348658 NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655 		JBrowse link
congenital nystagmus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked OMIM
ClinVar		 PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 More... NCBI chrNW_004936691:2,664,968...2,756,300
Ensembl chrNW_004936691:2,701,546...2,755,980 		JBrowse link
congenital nystagmus 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked OMIM
ClinVar		 PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 More... NCBI chrNW_004936644:196,344...236,659
Ensembl chrNW_004936644:196,263...235,305 		JBrowse link
Congenital Nystagmus 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO OMIM NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655 		JBrowse link
Foveal Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:28492532 PMID:31696227 NCBI chrNW_004936521:10,038,345...10,039,345
Ensembl chrNW_004936521:10,038,765...10,039,223 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29385733 NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chrNW_004936706:1,961,571...1,996,637
Ensembl chrNW_004936706:1,964,237...1,995,175 		JBrowse link
G Slc38a8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636 NCBI chrNW_004936641:3,757,107...3,778,939
Ensembl chrNW_004936641:3,757,130...3,774,098 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More... NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
foveal hypoplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome OMIM
ClinVar		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		JBrowse link
foveal hypoplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis OMIM
ClinVar		 PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 More... NCBI chrNW_004936641:3,757,107...3,778,939
Ensembl chrNW_004936641:3,757,130...3,774,098 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chrNW_004936495:4,660,616...4,695,338
Ensembl chrNW_004936495:4,660,641...4,694,402 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chrNW_004936495:4,716,359...4,719,162
Ensembl chrNW_004936495:4,716,629...4,719,162 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 NCBI chrNW_004936532:5,814,331...5,850,188
Ensembl chrNW_004936532:5,814,329...5,850,352 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chrNW_004936532:5,931,677...5,938,569 JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741909 PMID:27005418 More... NCBI chrNW_004936532:5,270,338...5,368,160
Ensembl chrNW_004936532:5,272,149...5,362,814 		JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A OMIM
ClinVar		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600 		JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO OMIM NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600 		JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chrNW_004936472:9,227,795...9,452,936
Ensembl chrNW_004936472:9,233,576...9,452,954 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital nystagmus 21
        Amyotrophic Dystonic Paraplegia 0
        Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
        Brachydactyly-Nystagmus-Cerebellar Ataxia 0
        Congenital Nystagmus 8 1
        Foveal Hypoplasia + 7
        Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
        Isolated Microphthalmia with Cataract 2 2
        Mental Retardation Mietens Weber Type 0
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 2
        Nystagmus 5, Infantile Periodic Alternating 0
        SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
        autosomal recessive congenital nystagmus 1
        congenital nystagmus 1 1
        congenital nystagmus 2 0
        congenital nystagmus 3 0
        congenital nystagmus 5 0
        congenital nystagmus 6 1
        congenital nystagmus 7 0
        spinocerebellar ataxia type 27 + 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              ocular motility disease 226
                pathologic nystagmus 95
                  congenital nystagmus 21
                    Amyotrophic Dystonic Paraplegia 0
                    Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                    Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                    Congenital Nystagmus 8 1
                    Foveal Hypoplasia + 7
                    Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
                    Isolated Microphthalmia with Cataract 2 2
                    Mental Retardation Mietens Weber Type 0
                    NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES 2
                    Nystagmus 5, Infantile Periodic Alternating 0
                    SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
                    autosomal recessive congenital nystagmus 1
                    congenital nystagmus 1 1
                    congenital nystagmus 2 0
                    congenital nystagmus 3 0
                    congenital nystagmus 5 0
                    congenital nystagmus 6 1
                    congenital nystagmus 7 0
                    spinocerebellar ataxia type 27 + 2
paths to the root