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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        Infant, Newborn, Diseases 429
          congenital nystagmus 14
            congenital nystagmus 1 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            cranial nerve disease 392
              ocular motility disease 116
                pathologic nystagmus 26
                  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.