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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


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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 CTD
ClinVar		 PMID:28492532 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G TBC1D20 TBC1 domain family member 20 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111562379 HNF4 motif-containing MPRA enhancer 203 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:32740904 NCBI chr 2:135,091,812...135,091,956 JBrowse link
G LOC129934831 ATAC-STARR-seq lymphoblastoid active region 16570 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:32740904
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 1
ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1		 ClinVar
OMIM		 PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More... NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G SNORA40B small nucleolar RNA, H/ACA box 40B IAGP ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:32740904 NCBI chr 2:135,136,628...135,136,755
Ensembl chr 2:135,136,628...135,136,755 		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 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 2
ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2		 OMIM
ClinVar		 PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003564 ATAC-STARR-seq lymphoblastoid active region 3187 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 3 ClinVar NCBI chr10:27,504,000...27,504,269 JBrowse link
G LOC130003565 ATAC-STARR-seq lymphoblastoid active region 3188 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:27,504,380...27,504,439 JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP
ISS		 ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM:614222		 ClinVar
MouseDO
OMIM		 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		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 IAGP
ISS		 ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM:615663		 OMIM
ClinVar
MouseDO		 PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Warburg micro syndrome 9
        Warburg micro syndrome 1 4
        Warburg micro syndrome 2 1
        Warburg micro syndrome 3 3
        Warburg micro syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                complex cortical dysplasia with other brain malformations 2173
                  Malformations of Cortical Development, Group I 1862
                    microcephaly 1521
                      Warburg micro syndrome 9
                        Warburg micro syndrome 1 4
                        Warburg micro syndrome 2 1
                        Warburg micro syndrome 3 3
                        Warburg micro syndrome 4 1
paths to the root