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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 PMID:28492532 NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital nervous system abnormality 1381
        microcephaly 1125
          lissencephaly 6 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal dominant disease 5310
                complex cortical dysplasia with other brain malformations 1451
                  Malformations of Cortical Development, Group II 145
                    lissencephaly 114
                      microlissencephaly 5
                        lissencephaly 6 1
paths to the root