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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 16035
    Developmental Diseases 9546
      Neurodevelopmental Disorders 4622
        intellectual disability 2167
          syndromic intellectual disability 687
            mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              developmental disorder of mental health 3165
                specific developmental disorder 2344
                  intellectual disability 2167
                    syndromic intellectual disability 687
                      mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.