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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 5
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Accession:DOID:0112230 term browser browse the term
Definition:A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in LAMB1 on chromosome 7q31.1. (DO)
Synonyms:exact_synonym: LIS5
 primary_id: OMIM:615191
 alt_id: DOID:9004164
For additional species annotation, visit the Alliance of Genome Resources.



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lissencephaly 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Lissencephaly 5 OMIM
ClinVar
PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 PMID:28492532 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital nervous system abnormality 1362
        lissencephaly 115
          lissencephaly 5 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group II 146
                    lissencephaly 115
                      lissencephaly 5 2
paths to the root