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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: 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 Col11a1 collagen type XI alpha 1 chain ISS
ISO		 OMIM:108300 | OMIM:184840 | OMIM:604841
ClinVar Annotator: match by term: Stickler syndrome
ClinVar Annotator: match by term: Stickler Syndrome, Dominant		 MouseDO
ClinVar		 PMID:10486316, PMID:10573014, PMID:20513134, PMID:25240749 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		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, PMID:25741868, PMID:26467025, PMID:26691295 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:24033266 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar NCBI chr 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: Stickler syndrome ClinVar PMID:25741868 NCBI chr 4:113,866,782...113,883,713
Ensembl chr 4:113,866,804...113,883,477 		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 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		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 STICKLER SYNDROME, NONOCULAR TYPE
ClinVar Annotator: match by term: Stickler syndrome, type 3
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
DNA:splice-site mutation:intron
ClinVar Annotator: match by OMIM:277610		 OMIM
ClinVar		 PMID:7833911, PMID:9506662, PMID:9805126, PMID:14234962, PMID:15372529, PMID:15922184, PMID:22938506, PMID:23967202, PMID:24033266, PMID:25240749, PMID:25633957, PMID:25741868, PMID:26467025, PMID:26691295, PMID:7859284 RGD:12904710 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stickler syndrome, type 3 ClinVar PMID:25741868 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		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: Stickler syndrome type 1
ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive
DNA:frame shift, missense, nonsense mutations:exons,splicing sites:
DNA:insertion:exon:c.2012_2013insC(human)
ClinVar Annotator: match by OMIM:108300
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		 PMID:1444917, PMID:1677770, PMID:2803268, PMID:7487609, PMID:7752132, PMID:8024616, PMID:8244341, PMID:8325895, PMID:8406454, PMID:8434604, PMID:8737653, PMID:9101290, PMID:10706362, PMID:10982970, PMID:11007540, PMID:12939326, PMID:14299791, PMID:15671297, PMID:16189708, PMID:16752401, PMID:17638425, PMID:17726487, PMID:18272325, PMID:18276201, PMID:19764028, PMID:20179744, PMID:20513134, PMID:22496037, PMID:22522174, PMID:24664531, PMID:25504618, PMID:25741868, PMID:26467025, PMID:26626311, PMID:26747767, PMID:27183340, PMID:27390512, PMID:28492532, PMID:29453956, PMID:30181686, PMID:30311386, PMID:18276201, PMID:12511349, PMID:9800905, PMID:8737653, PMID:1677770, PMID:7487609, PMID:12204008, PMID:20179744, PMID:16546167, PMID:23592912 RGD:12436723, RGD:11667954, RGD:8657405, RGD:8657401, RGD:13524555, RGD:8657393, RGD:8657352, RGD:8657343, RGD:8657341, RGD:8657340 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		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, type 2
ClinVar Annotator: match by OMIM:604841
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:8872475, PMID:10573014, PMID:10725403, PMID:11668615, PMID:17999364, PMID:20513134, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27081569, PMID:28492532 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		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, type 4
ClinVar Annotator: match by OMIM:614134		 OMIM
ClinVar		 PMID:16909383, PMID:21421862 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298 		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
ClinVar Annotator: match by OMIM:614284		 OMIM
ClinVar		 PMID:21671392, PMID:30311386 NCBI chr 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Stickler syndrome 6
        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 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          Stickler syndrome 6
            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

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