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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 the TUBA1A gene on chromosome 12q13.12. (DO)
Synonyms:exact_synonym: LIS3;   LISSENCEPHALY DUE TO TUBA1A MUTATION;   LISSENCEPHALY TYPE 3;   TUBA1A-ASSOCIATED TUBULINOPATHY;   TUBA1A-RELATED CONDITION;   TUBULINOPATHY-ASSOCIATED DYSGYRIA
 broad_synonym: TUBULINOPATHIES;   TUBULINOPATHY
 primary_id: MESH:C566908
 alt_id: DOID:9000102;   MIM:611603
 xref: NCI:C148461;   ORDO:171680



show annotations for term's descendants           Sort by:
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 due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr10:56,655,693...56,664,922 JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr10:16,844,888...16,851,458 JBrowse link
G Tuba1a tubulin, alpha 1A ISO DNA:missense mutations:cds
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
OMIM
CTD
ClinVar
RGD
PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... RGD:11067701 NCBI chr 7:131,992,151...131,996,850 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5191
      congenital nervous system abnormality 1536
        lissencephaly 131
          lissencephaly 3 3
            Lissencephaly Type III and Bone Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10931
            autosomal genetic disease 10418
              autosomal dominant disease 6762
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      lissencephaly 3 3
                        Lissencephaly Type III and Bone Dysplasia 0
paths to the root