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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

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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 term: Warburg micro syndrome 4 OMIM
ClinVar		 PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr 2:56,065,975...56,093,521
Ensembl chr 2:56,066,042...56,094,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    syndrome 9981
      Warburg micro syndrome 4
        Warburg micro syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15273
    Developmental Disease 13265
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12391
        genetic disease 12047
          monogenic disease 10078
            autosomal genetic disease 9302
              autosomal dominant disease 6141
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1363
                    microcephaly 1120
                      Warburg micro syndrome 4
                        Warburg micro syndrome 4 1
paths to the root