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ONTOLOGY REPORT - ANNOTATIONS


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
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mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAST1 microtubule associated serine/threonine kinase 1 JBrowse link 19 26,026,045 26,053,762 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Neurodevelopmental Disorders 4096
        intellectual disability 1720
          syndromic intellectual disability 676
            mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        central nervous system disease 8254
          brain disease 7600
            disease of mental health 5554
              developmental disorder of mental health 2729
                specific developmental disorder 1895
                  intellectual disability 1720
                    syndromic intellectual disability 676
                      mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.