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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 the FRMD7 gene on chromosome Xq26.2. (DO)
Synonyms:exact_synonym: FRMD7-RELATED CONDITION;   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: MIM:310700
 xref: GARD:2969


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:310700
ClinVar Annotator: match by term: FRMD7-related condition | ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked		 OMIM
CTD
MouseDO
ClinVar		 PMID:16020310 PMID:17013395 PMID:17397053 PMID:17768376 PMID:17893669 More... NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital nystagmus 24
        congenital nystagmus 1 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              ocular motility disease 258
                pathologic nystagmus 110
                  congenital nystagmus 24
                    congenital nystagmus 1 1
paths to the root