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Pathways

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
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:23301081 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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 chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital nystagmus ClinVar PMID:25741868 PMID:28492532 PMID:35348658 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32971638 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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 chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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
ISS
OMIM:310700
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 More... NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
OMIM
CTD
ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
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 chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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 chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29385733 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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 chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 More... NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
JBrowse link
O'Donnell Pappas Syndrome 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 chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
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
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 or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
OMIM
CTD
ClinVar
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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:27005418 PMID:28492532 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
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 CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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 chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:193003
ClinVar Annotator: match by term: Nystagmus 4, congenital, autosomal dominant | ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
CTD
MouseDO
ClinVar
PMID:5470364 PMID:12489043 PMID:15470364 PMID:17978045 PMID:21681106 More... NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    physical disorder 4898
      congenital nystagmus 19
        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
        Nystagmus 5, Infantile Periodic Alternating 0
        O'Donnell Pappas Syndrome 2
        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 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Neurologic Manifestations 9982
          sensory system disease 6883
            eye disease 3446
              ocular motility disease 220
                pathologic nystagmus 100
                  congenital nystagmus 19
                    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
                    Nystagmus 5, Infantile Periodic Alternating 0
                    O'Donnell Pappas Syndrome 2
                    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