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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:autosomal recessive congenital nystagmus
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Accession:DOID:0111797 term browser browse the term
Definition:A congenital nystagmus characterized by autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: congenital motor nystagmus, autosomal recessive
 primary_id: MESH:C564938
 alt_id: MIM:257400
 xref: GARD:9609


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    physical disorder 5168
      congenital nystagmus 23
        autosomal recessive congenital nystagmus 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            eye disease 3732
              ocular motility disease 249
                pathologic nystagmus 107
                  congenital nystagmus 23
                    autosomal recessive congenital nystagmus 1
paths to the root