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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 3
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Accession:DOID:0112232 term browser browse the term
Definition:A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in TUBA1A on chromosome 12q13.12. (DO)
Synonyms:exact_synonym: LIS3;   TUBA1A-ASSOCIATED TUBULINOPATHY
 broad_synonym: TUBULINOPATHIES;   TUBULINOPATHY
 primary_id: MESH:C566908
 alt_id: DOID:9000102;   OMIM:611603
 xref: NCI:C148461;   ORDO:171680
For additional species annotation, visit the Alliance of Genome Resources.


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lissencephaly 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Lissencephaly 3 ClinVar PMID:10873396 PMID:22412862 PMID:25741868 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly 3 ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Tubulinopathies
ClinVar Annotator: match by OMIM:611603
ClinVar Annotator: match by term: Lissencephaly 3
OMIM
ClinVar
PMID:3680207 PMID:6945576 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:24088041 PMID:24860126 PMID:25059107 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26633545 PMID:26663670 PMID:28492532 PMID:29671837 PMID:29706646 PMID:29907476 PMID:30087272 PMID:30744660 PMID:31474318 PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    physical disorder 2965
      congenital nervous system abnormality 978
        lissencephaly 69
          lissencephaly 3 3
            Lissencephaly Type III and Bone Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        genetic disease 8664
          monogenic disease 6639
            autosomal genetic disease 5795
              autosomal dominant disease 4091
                complex cortical dysplasia with other brain malformations 1167
                  Malformations of Cortical Development, Group I 1027
                    microcephaly 873
                      lissencephaly 3 3
                        Lissencephaly Type III and Bone Dysplasia 0
paths to the root