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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:lissencephaly 6
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Accession:DOID:0112236 term browser browse the term
Definition:A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in KATNB1 on chromosome 16q21. (DO)
Synonyms:exact_synonym: LIS6;   lissencephaly 6 with microcephaly
 primary_id: OMIM:616212
 alt_id: DOID:9008089
For additional species annotation, visit the Alliance of Genome Resources.


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lissencephaly 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Lissencephaly 6, with microcephaly OMIM
ClinVar
PMID:25521378 PMID:25521379 PMID:25741868 NCBI chr19:10,340,027...10,360,319
Ensembl chr19:10,340,307...10,360,310
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      congenital nervous system abnormality 977
        microcephaly 872
          lissencephaly 6 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group II 140
                    lissencephaly 69
                      microlissencephaly 5
                        lissencephaly 6 1
paths to the root