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
Accession: DOID:0080046
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 ; MIM:PS108300 ; NCI:C74984 ; ORDO:828
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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
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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
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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 PMID:28492532 More...
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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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:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:29907799 More...
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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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:10982970 PMID:12544472 PMID:12939326 PMID:20179744 PMID:20301479 PMID:24033266 PMID:25741868 PMID:26443184 PMID:28492532 PMID:30311386 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Stickler syndrome
ClinVar
PMID:21897443 PMID:24130771 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col9a1
collagen type IX alpha 1 chain
ISO
ClinVar Annotator: match by term: Stickler syndrome
ClinVar
PMID:25741868
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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Col9a2
collagen type IX alpha 2 chain
ISO
ClinVar Annotator: match by term: Stickler syndrome
ClinVar
PMID:21671392 PMID:28492532 PMID:30311386 PMID:31896775 PMID:33356723
NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677
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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 PMID:33570243 More...
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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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
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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
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Vcan
versican
ISO
ClinVar Annotator: match by term: Stickler syndrome
ClinVar
PMID:16877430 PMID:25741868
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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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
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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 PMID:10677296 PMID:14234962 PMID:15372529 PMID:15558753 PMID:15922184 PMID:17576681 PMID:21204229 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:25780254 PMID:26445815 PMID:26467025 PMID:26691295 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28692176 PMID:29456477 PMID:29907799 PMID:30311386 PMID:31299979 PMID:31680349 PMID:33111345 PMID:33297549 PMID:33348901 PMID:7859284 More...
RGD:12904710
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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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
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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 PMID:7695699 PMID:7741714 PMID:7849719 PMID:7977371 PMID:8024616 PMID:8218237 PMID:8244341 PMID:8406454 PMID:8423604 PMID:8434604 PMID:8702139 PMID:8737653 PMID:8893763 PMID:9016532 PMID:9536098 PMID:9800905 PMID:10353778 PMID:10486316 PMID:10706362 PMID:10729292 PMID:10982970 PMID:11007540 PMID:12544472 PMID:12939326 PMID:14299791 PMID:15671297 PMID:15895462 PMID:16189708 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17638425 PMID:17721977 PMID:17726487 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20131279 PMID:20179744 PMID:20301479 PMID:20513134 PMID:22496037 PMID:22522174 PMID:22574936 PMID:22791362 PMID:23022073 PMID:24664531 PMID:25046119 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:25809783 PMID:25967556 PMID:26037341 PMID:26420734 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26709265 PMID:26747767 PMID:27183340 PMID:27234559 PMID:27390512 PMID:27408751 PMID:28018693 PMID:28492532 PMID:28559085 PMID:28983407 PMID:29095814 PMID:29453956 PMID:30181686 PMID:30311386 PMID:31021589 PMID:31299979 PMID:31625567 PMID:31736238 PMID:31872526 PMID:32071555 PMID:32510848 PMID:32756486 PMID:34008892 PMID:34529350 PMID:35052477 PMID:36400164 PMID:36901693 PMID:18276201 PMID:12511349 PMID:9800905 PMID:8737653 PMID:1677770 PMID:7487609 PMID:12204008 PMID:20179744 PMID:16546167 PMID:23592912 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
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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 PMID:10486316 PMID:10573014 PMID:10725403 PMID:11668615 PMID:13520885 PMID:16199547 PMID:17236192 PMID:17576681 PMID:17999364 PMID:19344236 PMID:19449424 PMID:20513134 PMID:21035103 PMID:23026214 PMID:23922384 PMID:23967202 PMID:25073711 PMID:25240749 PMID:25326635 PMID:25741868 PMID:26377240 PMID:26467025 PMID:27081549 PMID:27081569 PMID:27124789 PMID:28492532 PMID:30020262 PMID:30245029 PMID:30919572 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33951325 PMID:34515852 PMID:34589056 PMID:34627339 PMID:35741851 PMID:35885918 More...
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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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:23967202 PMID:24036952 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:30311386 More...
NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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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 PMID:33356723 More...
NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677
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Col9a3
collagen type IX alpha 3 chain
susceptibility
ISO
ClinVar Annotator: match by term: Stickler syndrome, type VI
ClinVar OMIM
PMID:24273071 PMID:25741868 PMID:28492532 PMID:30450842 PMID:31090205 PMID:33570243 PMID:35241111 More...
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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