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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 4
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Accession:DOID:0112235 term browser browse the term
Definition:A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in NDE1 on chromosome 16p13.11. (DO)
Synonyms:exact_synonym: LIS4;   lissencephaly 4 with microcephaly
 primary_id: OMIM:614019
 alt_id: DOID:9008921
For additional species annotation, visit the Alliance of Genome Resources.

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lissencephaly 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by OMIM:614019		 OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26206584 PMID:26467025 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Neurodevelopmental Disorders 5567
        intellectual disability 3385
          lissencephaly 4 3
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group II 140
                    lissencephaly 69
                      microlissencephaly 5
                        lissencephaly 4 3
paths to the root