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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 12
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Accession:DOID:9004966 term browser browse the term
Definition:This disease is an autosomal recessive disorder of developmental neuronal migration characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features. Caused by homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.
Synonyms:exact_synonym: CAMSAP1-RELATED NEURONAL MIGRATION DISORDER;   CDCBM12;   CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
 primary_id: MIM:620316


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Complex Cortical Dysplasia with Other Brain Malformations 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12 OMIM
ClinVar		 PMID:25741868 PMID:36283405 NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        Nervous System Malformations 2450
          complex cortical dysplasia with other brain malformations 1633
            Complex Cortical Dysplasia with Other Brain Malformations 12 1
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 12 1
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