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 QTLs Strains Markers Community Projects Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) 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 COVID-19 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 GERRC (Gene Editing Rat Resource Center) 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:Stickler syndrome
go back to main search page
Accession:DOID:0080046 term browser browse the term
Definition:A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)
Synonyms:narrow_synonym: AUTOSOMAL RECESSIVE STICKLER SYNDROME;   Stickler syndrome, dominant
 xref: GARD:10782;   NCI:C74984;   OMIM:PS108300;   ORDO:828


show annotations for term's descendants           Sort by:
Stickler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:17594715 PMID:28492532 PMID:30311386 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISS
ISO		 OMIM:108300 | OMIM:184840 | OMIM:604841
ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome		 MouseDO
ClinVar		 PMID:10486316 PMID:10573014 PMID:20513134 PMID:25240749 PMID:25741868 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISS
ISO		 OMIM:108300 | OMIM:184840 | OMIM:604841
ClinVar Annotator: match by term: Stickler Syndrome, Dominant		 MouseDO
ClinVar		 PMID:15922184 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 More... NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26443184 PMID:28492532 PMID:30311386 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:21897443 PMID:24130771 PMID:28492532 PMID:30311386 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:28492532 PMID:30311386 PMID:31896775 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Autosomal recessive Stickler syndrome | ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:24273071 PMID:25741868 PMID:28492532 PMID:30450842 PMID:31090205 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron		 OMIM
ClinVar
CTD
RGD		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... RGD:12904710 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar PMID:25741868 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Stickler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive | ClinVar Annotator: match by term: Stickler syndrome type 1
CTD Direct Evidence: marker/mechanism
DNA:frame shift, missense, nonsense mutations:exons,splicing sites:
DNA:insertion:exon:c.2012_2013insC(human)
DNA:missense mutation:exon:p.R704C (human)
DNA:snp:intron:IVS17-2A>G (human)
DNA:nonsense mutation:exon:p.R732X (human)
DNA:deletion:exon:g.33524_33526delC (human)
DNA:deletion:exons: (human)
DNA:mutations:multiple (human)
DNA:nonsense mutation:exon:p.C86X (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1444917 PMID:1677770 PMID:1905723 PMID:2803268 PMID:7487609 More... RGD:12436723, RGD:11667954, RGD:8657405, RGD:8657401, RGD:13524555, RGD:8657393, RGD:8657352, RGD:8657343, RGD:8657341, RGD:8657340 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Stickler syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type		 CTD
OMIM
ClinVar		 PMID:8872475 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
Stickler Syndrome, Type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:16909383 PMID:20301479 PMID:21421862 PMID:23967202 More... NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
Stickler Syndrome, Type V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stickler syndrome, type 5		 OMIM
CTD
ClinVar		 PMID:20301479 PMID:21671392 PMID:25741868 PMID:28492532 PMID:30311386 More... NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
Stickler Syndrome, Type VI term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Stickler syndrome, type VI ClinVar
OMIM		 PMID:24273071 PMID:25741868 PMID:28492532 PMID:30450842 PMID:31090205 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Stickler syndrome 11
        Marshall/Stickler Syndrome 1
        Stickler Syndrome, Type IV 1
        Stickler Syndrome, Type V 1
        Stickler Syndrome, Type VI 1
        Stickler syndrome 1 1
        Stickler syndrome 2 1
        otospondylomegaepiphyseal dysplasia, autosomal dominant 2
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      musculoskeletal system disease 8216
        connective tissue disease 5710
          Stickler syndrome 11
            Marshall/Stickler Syndrome 1
            Stickler Syndrome, Type IV 1
            Stickler Syndrome, Type V 1
            Stickler Syndrome, Type VI 1
            Stickler syndrome 1 1
            Stickler syndrome 2 1
            otospondylomegaepiphyseal dysplasia, autosomal dominant 2
paths to the root