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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
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Accession:DOID:0060237 term browser browse the term
Definition:A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO)
Synonyms:exact_synonym: WARBM;   Warburg Sjo Fledelius syndrome;   micro syndrome;   polyneuropathy, ocular abnormalities and neuronal vacuolation
 primary_id: MESH:C536681
 alt_id: OMIA:001970
 xref: OMIM:PS600118;   ORDO:2510
For additional species annotation, visit the Alliance of Genome Resources.



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Warburg micro syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by OMIM:600118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
CTD
PMID:25741868 PMID:26467025 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar
OMIM
PMID:8249951 PMID:15216543 PMID:15696165 PMID:17351351 PMID:18286824 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome 2
ClinVar Annotator: match by OMIM:614225
OMIM
ClinVar
PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3
ClinVar Annotator: match by OMIM:614222
OMIM
ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      Warburg micro syndrome 4
        Warburg micro syndrome 1 1
        Warburg micro syndrome 2 1
        Warburg micro syndrome 3 1
        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 1 1
                        Warburg micro syndrome 2 1
                        Warburg micro syndrome 3 1
                        Warburg micro syndrome 4 1
paths to the root