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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:Stickler syndrome
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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
For additional species annotation, visit the Alliance of Genome Resources.


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 chr20:4,786,929...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:26443184 PMID:28492532 PMID:30311386 NCBI chr 7:129,098,489...129,127,620
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:30311386 NCBI chr 9:83,875,958...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 PMID:30450842 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 chr18:70,818,276...70,969,983
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 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: OSMED, HETEROZYGOUS | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia
DNA:splice-site mutation:intron		 OMIM
ClinVar
RGD		 PMID:7833911 PMID:9506662 PMID:9536098 PMID:9805126 PMID:14234962 More... RGD:12904710 NCBI chr20:4,786,929...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...129,127,620
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
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
RGD		 PMID:1444917 PMID:1677770 PMID:2803268 PMID:7487609 PMID:8244341 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...129,127,620
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 ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8872475 PMID:9536098 PMID:10486316 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 ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4 OMIM
ClinVar		 PMID:16199547 PMID:16909383 PMID:20301479 PMID:21421862 PMID:25741868 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 ClinVar Annotator: match by term: Stickler syndrome, type 5 OMIM
ClinVar		 PMID:20301479 PMID:21671392 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Stickler syndrome 11
        Marshall/Stickler Syndrome 1
        Stickler Syndrome, Type IV 1
        Stickler Syndrome, Type V 1
        Stickler syndrome 1 1
        Stickler syndrome 2 1
        otospondylomegaepiphyseal dysplasia, autosomal dominant 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          Stickler syndrome 11
            Marshall/Stickler Syndrome 1
            Stickler Syndrome, Type IV 1
            Stickler Syndrome, Type V 1
            Stickler syndrome 1 1
            Stickler syndrome 2 1
            otospondylomegaepiphyseal dysplasia, autosomal dominant 2
paths to the root