Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Robinow syndrome
go back to main search page
Accession:DOID:0060254 term browser browse the term
Definition:A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)
Synonyms:exact_synonym: Robinow dwarfism;   Robinow-Silverman-Smith syndrome;   acral dysostosis with facial and genital abnormalities;   autosomal dominant Robinow syndrome;   fetal face syndrome;   mesomelic dwarfism-small genitalia syndrome
 primary_id: MESH:C562492
 alt_id: RDO:0012199
 xref: GARD:312;   NCI:C85048;   OMIM:PS268310

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Robinow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf4 dynein axonemal assembly factor 4 ISO MouseDO NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288 		JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 OMIM
ClinVar		 PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288 		JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chrNW_004624787:11,989,587...12,176,925 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 OMIM
ClinVar		 PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More... NCBI chrNW_004624730:72,396,437...72,412,260
Ensembl chrNW_004624730:72,396,343...72,413,175 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO OMIM:268310 MouseDO NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly OMIM
ClinVar		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:15952209 PMID:16049033 More... NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		JBrowse link
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chrNW_004624786:3,373,533...3,516,592
Ensembl chrNW_004624786:3,372,796...3,515,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    syndrome 9294
      Robinow syndrome 9
        Autosomal Recessive Robinow Syndrome 2 1
        autosomal dominant Robinow syndrome 1 5
        autosomal dominant Robinow syndrome 2 4
        autosomal dominant Robinow syndrome 3 2
        autosomal recessive Robinow syndrome 2
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      musculoskeletal system disease 7235
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                Robinow syndrome 9
                  Autosomal Recessive Robinow Syndrome 2 1
                  autosomal dominant Robinow syndrome 1 5
                  autosomal dominant Robinow syndrome 2 4
                  autosomal dominant Robinow syndrome 3 2
                  autosomal recessive Robinow syndrome 2
paths to the root