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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 Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Lissencephaly 3
ClinVar Annotator: match by term: Tubulinopathies
OMIM
ClinVar
PMID:3680207 PMID:6945576 PMID:17218254 PMID:17584854 PMID:18199681 More... NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    physical disorder 3128
      congenital nervous system abnormality 1050
        lissencephaly 70
          lissencephaly 3 1
            Lissencephaly Type III and Bone Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal dominant disease 4483
                complex cortical dysplasia with other brain malformations 1153
                  Malformations of Cortical Development, Group I 1062
                    microcephaly 903
                      lissencephaly 3 1
                        Lissencephaly Type III and Bone Dysplasia 0
paths to the root