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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 7 with cerebellar hypoplasia
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Accession:DOID:0112231 term browser browse the term
Definition:A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. (DO)
Synonyms:exact_synonym: LIS7
 primary_id: OMIM:616342
 alt_id: DOID:9002648


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lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25560765 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital nervous system abnormality 1496
        lissencephaly 116
          lissencephaly 7 with cerebellar hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group II 185
                    lissencephaly 116
                      lissencephaly 7 with cerebellar hypoplasia 1
paths to the root