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lissencephaly 7 with cerebellar hypoplasia - Ontology Report - Rat Genome Database

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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: MIM: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 N Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chrNW_004624800:5,562,468...5,566,458
Ensembl chrNW_004624800:5,562,462...5,569,937 		JBrowse link
G G CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr21:119,235,687...119,240,163 JBrowse link
G P CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr18:6,166,914...6,171,157 JBrowse link
G S Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chrNW_004936527:6,478,934...6,483,848
Ensembl chrNW_004936527:6,478,982...6,483,866 		JBrowse link
G D CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269 		JBrowse link
G B CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499 		JBrowse link
G C Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chrNW_004955491:5,491,744...5,497,280
Ensembl chrNW_004955491:5,491,744...5,497,280 		JBrowse link
G R Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G M Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528 		JBrowse link
G H CDK5 cyclin dependent kinase 5 IAGP ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia ClinVar
OMIM		 PMID:25560765 PMID:25741868 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital nervous system abnormality 15621
        lissencephaly 1323
          lissencephaly 7 with cerebellar hypoplasia 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                complex cortical dysplasia with other brain malformations 16799
                  Malformations of Cortical Development, Group II 2086
                    lissencephaly 1323
                      lissencephaly 7 with cerebellar hypoplasia 10
paths to the root