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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 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)
ClinVar Annotator: match by OMIM:108300
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:8244341 PMID:8406454 PMID:8434604 PMID:8737653 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: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:28492532 PMID:29453956 PMID:30181686 PMID:30311386 PMID:32071555, 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 17126
    syndrome 8015
      Stickler syndrome 11
        Stickler syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                Stickler syndrome 1 1
paths to the root