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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:exact_synonym: CDCBM8;   CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 8
 primary_id: MESH:C567715;   RDO:0015709
 alt_id: OMIM:613180
For additional species annotation, visit the Alliance of Genome Resources.


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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 null
ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia
OMIM
ClinVar
PMID:18414213 PMID:19896110 PMID:25741868 PMID:26467025 NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Nervous System Malformations 1041
          complex cortical dysplasia with other brain malformations 707
            Polymicrogyria with Optic Nerve Hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Polymicrogyria with Optic Nerve Hypoplasia 1
paths to the root