Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
go back to main search page
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
 alt_id: DOID:9008787
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 15639
    Developmental Diseases 8774
      Neurodevelopmental Disorders 4083
        intellectual disability 1712
          syndromic intellectual disability 674
            mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    syndromic intellectual disability 674
                      mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
paths to the root

NHLBI Logo

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