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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 CDK5 on chromosome 7q36.1. (DO)
Synonyms:exact_synonym: LIS7
 primary_id: OMIM:616342
 alt_id: DOID:9002648
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM
ClinVar
PMID:25560765 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital nervous system abnormality 1031
        lissencephaly 71
          lissencephaly 7 with cerebellar hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1183
                  Malformations of Cortical Development, Group II 142
                    lissencephaly 71
                      lissencephaly 7 with cerebellar hypoplasia 1
paths to the root