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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 1
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Accession:DOID:0080676 term browser browse the term
Definition:A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: AOM;   Oculoskeletal dysplasia 1;   STL1;   Stickler dysplasia;   Stickler syndrome, membranous vitreous type;   Stickler syndrome, type 1;   Stickler syndrome, type I;   Stickler syndrome, vitreous type 1;   hereditary arthro-ophthalmo-dystrophy;   hereditary arthro-ophthalmopathy;   hereditary progressive arthroophthalmopathy
 primary_id: MESH:C537492
 alt_id: OMIA:001522;   OMIM:108300
 xref: NCI:C168733;   ORDO:90653
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:108300
DNA:nonsense mutation:exon:p.C86X (human)
DNA:mutations:multiple (human)
DNA:deletion:exons: (human)
DNA:deletion:exon:g.33524_33526delC (human)
DNA:nonsense mutation:exon:p.R732X (human)
DNA:snp:intron:IVS17-2A>G (human)
DNA:missense mutation:exon:p.R704C (human)
DNA:insertion:exon:c.2012_2013insC(human)
DNA:frame shift, missense, nonsense mutations:exons,splicing sites:
ClinVar Annotator: match by term: Stickler syndrome type 1
ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive
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:23592912, PMID:16546167, PMID:20179744, PMID:12204008, PMID:7487609, PMID:1677770, PMID:8737653, PMID:9800905, PMID:12511349, PMID:18276201 RGD:8657340, RGD:8657341, RGD:8657343, RGD:8657352, RGD:8657393, RGD:13524555, RGD:8657401, RGD:8657405, RGD:11667954, RGD:12436723 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Stickler syndrome 6
        Stickler syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                Stickler syndrome 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.