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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:mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
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Accession:DOID:0111403 term browser browse the term
Definition:A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. (DO)
Synonyms:exact_synonym: MAST1-RELATED CONDITION;   MCCCHCM
 primary_id: OMIM:618273


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mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAST1 microtubule associated serine/threonine kinase 1 ISO
ISS		 OMIM:618273
ClinVar Annotator: match by term: MAST1-related condition | ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations		 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:30449657 PMID:32198973 PMID:32901917 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          syndromic intellectual disability 752
            mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    syndromic intellectual disability 752
                      mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
paths to the root