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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:9000102 term browser browse the term
Synonyms:exact_synonym: LIS3
 broad_synonym: TUBULINOPATHIES;   TUBULINOPATHY
 primary_id: MESH:C566908
 alt_id: OMIM:611603;   RDO:0015121
 xref: NCI:C148461
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 Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by OMIM:611603
ClinVar Annotator: match by term: Lissencephaly 3
ClinVar Annotator: match by term: Tubulinopathies
OMIM
ClinVar
PMID:17218254, PMID:17584854, PMID:18414213, PMID:18669490, PMID:18728072, PMID:18954413, PMID:20466733, PMID:20603323, PMID:21403111, PMID:22264709, PMID:23361065, PMID:23528852, PMID:24088041, PMID:24860126, PMID:25008804, PMID:25059107, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26633545, PMID:26663670, PMID:26795593, PMID:28492532, PMID:29706646, PMID:30087272, PMID:30311386, PMID:30744660, 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 16058
    physical disorder 985
      congenital nervous system abnormality 535
        lissencephaly 62
          Lissencephaly 3 1
            Lissencephaly Type III and Bone Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Lissencephaly 3 1
                        Lissencephaly Type III and Bone Dysplasia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.