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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability ClinVar PMID:26153217 PMID:27108999 NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        intellectual disability 3475
          Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    Macrocephaly 68
                      Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
paths to the root