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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 10
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Accession:DOID:0112229 term browser browse the term
Definition:A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in CEP85L on chromosome 6q22.31. (DO)
Synonyms:exact_synonym: LIS10
 primary_id: OMIM:618873
 alt_id: DOID:9006184
For additional species annotation, visit the Alliance of Genome Resources.


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lissencephaly 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: LISSENCEPHALY 10
ClinVar Annotator: match by term: Lissencephaly 10
OMIM
ClinVar
PMID:12910438 PMID:25741868 PMID:32097630 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital nervous system abnormality 1042
        lissencephaly 70
          lissencephaly 10 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group II 141
                    lissencephaly 70
                      lissencephaly 10 1
paths to the root