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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: MIM:184840


show annotations for term's descendants           Sort by:
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 DNA:splice-site mutation:intron
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia		 OMIM
CTD
ClinVar
RGD		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... RGD:12904710 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Stickler syndrome 13
        otospondylomegaepiphyseal dysplasia, autosomal dominant 2
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Craniofacial Abnormalities 2765
              Maxillofacial Abnormalities 311
                Jaw Abnormalities 265
                  Weissenbacher-Zweymuller syndrome 46
                    otospondylomegaepiphyseal dysplasia, autosomal dominant 2
paths to the root