Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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: ICD10CM:H55.01;   ICD9CM:379.51;   OMIM:PS310700;   ORDO:651
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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 CTD PMID:23301081 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443 		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 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508 		JBrowse link
G Pax6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		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: Infantile nystagmus, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:310700		 OMIM
ClinVar
CTD		 PMID:16020310 PMID:17013395 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25741868 PMID:25916882 PMID:28492532 NCBI chr  X:138,095,707...138,149,702
Ensembl chr  X:138,098,185...138,148,967 		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
ClinVar Annotator: match by OMIM:300814		 OMIM
ClinVar		 PMID:17516023 PMID:18523664 PMID:19390656 PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162 		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 chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		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
ClinVar Annotator: match by OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis		 OMIM
ClinVar		 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633 		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 ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729 		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 and presenile cataract syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO 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 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520		 OMIM
ClinVar		 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		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
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity		 ClinVar
OMIM		 PMID:25741868 PMID:27005418 PMID:28492532 NCBI chr 6:44,225,142...44,322,938
Ensembl chr 6:44,225,233...44,322,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      congenital nystagmus 14
        Amyotrophic Dystonic Paraplegia 0
        Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
        Brachydactyly-Nystagmus-Cerebellar Ataxia 0
        Foveal Hypoplasia + 7
        Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
        Isolated Microphthalmia with Cataract 2 1
        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 0
        congenital nystagmus 1 1
        congenital nystagmus 2 0
        congenital nystagmus 3 0
        congenital nystagmus 4 0
        congenital nystagmus 5 0
        congenital nystagmus 6 1
        congenital nystagmus 7 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            cranial nerve disease 416
              ocular motility disease 133
                pathologic nystagmus 31
                  congenital nystagmus 14
                    Amyotrophic Dystonic Paraplegia 0
                    Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                    Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                    Foveal Hypoplasia + 7
                    Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
                    Isolated Microphthalmia with Cataract 2 1
                    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 0
                    congenital nystagmus 1 1
                    congenital nystagmus 2 0
                    congenital nystagmus 3 0
                    congenital nystagmus 4 0
                    congenital nystagmus 5 0
                    congenital nystagmus 6 1
                    congenital nystagmus 7 0
paths to the root