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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: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
 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:16240070, PMID:17013395, PMID:17768376, 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, PMID:30311386 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 OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
OMIM
ClinVar
PMID:19590516, PMID:24045842, PMID:24290379 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:26416026, PMID:28492532, PMID:28617965, PMID:29597095 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 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              ocular motility disease 173
                pathologic nystagmus 48
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.