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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:Warburg micro syndrome 4
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Accession:DOID:0110719 term browser browse the term
Definition:A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: WARBM4;   micro syndrome 4
 primary_id: OMIM:615663
For additional species annotation, visit the Alliance of Genome Resources.



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Warburg micro syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by OMIM:615663
ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM
ClinVar
PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      Warburg micro syndrome 4
        Warburg micro syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1053
                    microcephaly 896
                      Warburg micro syndrome 4
                        Warburg micro syndrome 4 1
paths to the root