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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 the PAX6 gene 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;   MESH:D000080344
 alt_id: OMIM:165550
 xref: GARD:8419;   ICD10CM:H47.03;   ICD9CM:377.43;   NCI:C101268;   NCI:C98999;   ORDO:137902


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral		 OMIM
CTD
ClinVar		 PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      septooptic dysplasia 16
        bilateral optic nerve hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                bilateral optic nerve hypoplasia 1
paths to the root