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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: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:C537130;   MESH:C563492
 alt_id: OMIM:165550
 xref: GARD:8419;   ICD10CM:H47.03;   ICD9CM:377.43;   NCI:C101268;   NCI:C98999;   ORDO:137902
For additional species annotation, visit the Alliance of Genome Resources.


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bilateral optic nerve hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral OMIM
ClinVar
PMID:12721955 PMID:25741868 PMID:28488383 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      septooptic dysplasia 10
        bilateral optic nerve hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                bilateral optic nerve hypoplasia 1
paths to the root