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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 MAST1 on chromosome 19p13.13. (DO)
Synonyms:exact_synonym: MCCCHCM
 primary_id: OMIM:618273
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS OMIM
ClinVar
PMID:25741868 PMID:30449657 NCBI chr19:26,026,045...26,053,762
Ensembl chr19:26,026,043...26,053,762
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Neurodevelopmental Disorders 5565
        intellectual disability 3387
          syndromic intellectual disability 751
            mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              developmental disorder of mental health 4270
                specific developmental disorder 3534
                  intellectual disability 3387
                    syndromic intellectual disability 751
                      mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
paths to the root