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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 the LAMB1 gene on chromosome 7q31.1. (DO)
Synonyms:exact_synonym: LAMB1-RELATED CONDITION;   LIS5
 primary_id: MIM:615191
 alt_id: DOID:9004164


show annotations for term's descendants           Sort by:
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 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: Lissencephaly 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23472759 PMID:25326635 More... NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital nervous system abnormality 1537
        lissencephaly 134
          lissencephaly 5 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group II 206
                lissencephaly 134
                  lissencephaly 5 2
paths to the root