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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.


show annotations for term's descendants           Sort by:
 
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 chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
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 chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
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
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
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:8958326, PMID:10465117, PMID:15216543, PMID:15696165, PMID:17351351, PMID:18286824, PMID:18414213, PMID:20512159, PMID:20584031, PMID:23420520, PMID:25326635, PMID:25741868, PMID:26138576, PMID:26421802, PMID:26467025, PMID:26852512, PMID:28492532, PMID:29300443, PMID:31319225 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165, PMID:25741868, PMID:26138576, PMID:26467025, PMID:28492532, PMID:29300443 NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
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, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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 chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
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 NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Warburg micro syndrome 5
        Warburg micro syndrome 1 2
        Warburg micro syndrome 2 1
        Warburg micro syndrome 3 1
        Warburg micro syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      Warburg micro syndrome 5
                        Warburg micro syndrome 1 2
                        Warburg micro syndrome 2 1
                        Warburg micro syndrome 3 1
                        Warburg micro syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.