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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:otospondylomegaepiphyseal dysplasia, autosomal dominant
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Accession:DOID:0080677 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. (DO)
Synonyms:exact_synonym: Heterozygous Osmed;   Heterozygous Otospondylomegaepiphyseal Dysplasia;   OSMEDA;   Pierre Robin Syndrome with Fetal Chondrodysplasia;   STL3;   Stickler syndrome nonocular type;   Stickler syndrome, type 3;   Stickler syndrome, type III;   Weissenbacher-Zweymuller syndrome, autosomal recessive
 primary_id: MESH:C535776;   MESH:C537494
 alt_id: OMIM:184840
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:277610
DNA:splice-site mutation:intron
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar Annotator: match by term: Stickler syndrome, type 3
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Weissenbacher-Zweymuller syndrome 47
        otospondylomegaepiphyseal dysplasia, autosomal dominant 2
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Musculoskeletal Abnormalities 1755
            Craniofacial Abnormalities 1455
              Maxillofacial Abnormalities 238
                Jaw Abnormalities 227
                  Weissenbacher-Zweymuller syndrome 47
                    otospondylomegaepiphyseal dysplasia, autosomal dominant 2
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.