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ONTOLOGY REPORT - ANNOTATIONS


Term:bilateral optic nerve hypoplasia
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Accession:DOID:0111531 term browser browse the term
Definition:An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13. (DO)
Synonyms:exact_synonym: ONH;   familial bilateral optic nerve hypoplasia;   isolated optic nerve hypoplasia/aplasia
 narrow_synonym: bilateral optic nerve aplasia
 primary_id: MESH:C563492
 alt_id: DOID:9000914;   OMIM:165550
 xref: GARD:8419;   ORDO:137902
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bilateral optic nerve hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    sensory system disease 4596
      eye and adnexa disease 2148
        eye disease 2148
          optic nerve disease 193
            bilateral optic nerve hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                bilateral optic nerve hypoplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.