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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 1
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Accession:DOID:0111790 term browser browse the term
Definition:A congenital nystagmus that has_material_basis_in mutation in FRMD7 on chromosome Xq26.2. (DO)
Synonyms:exact_synonym: FRMD7-related infantile nystagmus;   NYS1;   Nystagmus 1, Congenital, X- Linked;   Nystagmus 1, Infantile, X-Linked;   Nystagmus, congenital motor, 1;   X-Linked Congenital Nystagmus;   X-linked idiopathic infantile nystagmus;   X-linked infantile nystagmus;   congenital motor nystagmus
 narrow_synonym: IIN;   NYSTAGMUS, INFANTILE IDIOPATHIC;   NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED;   XIPAN;   XLPAN
 primary_id: MESH:C537853;   MESH:C580539
 alt_id: OMIM:310700
 xref: GARD:2969
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:310700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile nystagmus, X-linked
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Infant, Newborn, Diseases 552
          congenital nystagmus 14
            congenital nystagmus 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            cranial nerve disease 477
              ocular motility disease 175
                pathologic nystagmus 47
                  congenital nystagmus 14
                    congenital nystagmus 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.