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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:Polymicrogyria with Optic Nerve Hypoplasia
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Accession:DOID:9006775 term browser browse the term
Synonyms:related_synonym: CDCBM8;   complex cortical dysplasia with other brain malformations 8
 primary_id: MESH:C567715


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Polymicrogyria with Optic Nerve Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia ClinVar PMID:18414213 PMID:19896110 PMID:20466094 PMID:25741868 PMID:26467025 More... NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      nervous system disease 14264
        Nervous System Malformations 2450
          complex cortical dysplasia with other brain malformations 1634
            Polymicrogyria with Optic Nerve Hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          monogenic disease 10700
            autosomal genetic disease 9872
              autosomal dominant disease 6531
                complex cortical dysplasia with other brain malformations 1634
                  Polymicrogyria with Optic Nerve Hypoplasia 1
paths to the root