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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 7
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Accession:DOID:0090132 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: CDCBM7;   PMGYSA;   POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC;   polymicrogyria due to TUBB2B mutation
 broad_synonym: TUBB2B-related condition
 xref: MIM:610031;   MONDO:0012399;   ORDO:300573


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complex cortical dysplasia with other brain malformations 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb2b tubulin, beta 2B class IIb ISO
ISS 		OMIM:610031
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 | ClinVar Annotator: match by term: TUBB2B-related condition 		OMIM
MouseDO
ClinVar		 PMID:9628483 PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 More... NCBI chr17:30,953,086...30,956,133
Ensembl chr17:30,952,923...30,955,990 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Nervous System Malformations 907
          complex cortical dysplasia with other brain malformations 572
            complex cortical dysplasia with other brain malformations 7 1
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          monogenic disease 4758
            autosomal genetic disease 4325
              autosomal dominant disease 2530
                complex cortical dysplasia with other brain malformations 7 1
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