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 ; NCI:C74984 ; OMIM:PS108300 ; ORDO:828
For additional species annotation, visit the
Alliance of Genome Resources .
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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:28492532 More...
NCBI chr20:4,786,929...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: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
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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:30311386
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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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
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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
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Loxhd1
lipoxygenase homology PLAT domains 1
ISO
ClinVar Annotator: match by term: Stickler syndrome
ClinVar
PMID:28492532 PMID:30311386
NCBI chr18:70,818,276...70,969,983
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
NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466
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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: 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 PMID:15372529 PMID:15922184 PMID:17576681 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:28492532 PMID:30311386 PMID:7859284 More...
RGD:12904710
NCBI chr20:4,786,929...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...129,127,620
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 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 PMID:8406454 PMID:8434604 PMID:8737653 PMID:9536098 PMID:10486316 PMID:10706362 PMID:10982970 PMID:11007540 PMID:12544472 PMID:12939326 PMID:14299791 PMID:15671297 PMID:16189708 PMID:16199547 PMID:16752401 PMID:17576681 PMID:17638425 PMID:17726487 PMID:18272325 PMID:18276201 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:22496037 PMID:22522174 PMID:24664531 PMID:25504618 PMID:25741868 PMID:25809783 PMID:26467025 PMID:26626311 PMID:26709265 PMID:26747767 PMID:27183340 PMID:27390512 PMID:27408751 PMID:28492532 PMID:29453956 PMID:30181686 PMID:30311386 PMID:32071555 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...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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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 PMID:10573014 PMID:10612821 PMID:10725403 PMID:11668615 PMID:15922184 PMID:17576681 PMID:17999364 PMID:19344236 PMID:20513134 PMID:23967202 PMID:25240749 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27081569 PMID:28492532 PMID:30245029 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:25741868 PMID:27959697 PMID:28492532 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
NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677
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