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ONTOLOGY REPORT - ANNOTATIONS


Term:Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
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Accession:DOID:9004447 term browser browse the term
Synonyms:primary_id: RDO:9001123
For additional species annotation, visit the Alliance of Genome Resources.


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Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Neurodevelopmental Disorders 4083
        intellectual disability 1713
          Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                complex cortical dysplasia with other brain malformations 488
                  Malformations of Cortical Development, Group I 344
                    Macrocephaly 53
                      Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 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.