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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:complex cortical dysplasia with other brain malformations 1
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Accession:DOID:0090137 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (DO)
Synonyms:exact_synonym: CDCBM1;   cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
 broad_synonym: TUBB3-RELATED CONDITION;   TUBB3-related disorder;   TUBB3-related tubulinopathy
 primary_id: MIM:614039
 xref: GARD:13032;   ORDO:300570


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complex cortical dysplasia with other brain malformations 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1 ClinVar PMID:25741868 NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1 OMIM
ClinVar		 PMID:2133536 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 More... NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          complex cortical dysplasia with other brain malformations 1 2
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6533
                complex cortical dysplasia with other brain malformations 1633
                  complex cortical dysplasia with other brain malformations 1 2
paths to the root