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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 disorder;   TUBB3-related tubulinopathy
 primary_id: OMIM:614039
 xref: GARD:13032;   ORDO:300570
For additional species annotation, visit the Alliance of Genome Resources.



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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:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 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 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          complex cortical dysplasia with other brain malformations 1 2
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal dominant disease 5130
                complex cortical dysplasia with other brain malformations 1438
                  complex cortical dysplasia with other brain malformations 1 2
paths to the root