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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:Cousin Syndrome
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Accession:DOID:9004239 term browser browse the term
Synonyms:exact_synonym: Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature;   PELVISCAPULAR DYSPLASIA;   Pelvic shoulder dysplasia
 primary_id: MESH:C535550
 alt_id: OMIM:260660;   RDO:0000731;   RDO:0008442
For additional species annotation, visit the Alliance of Genome Resources.



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Cousin Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cousin syndrome
ClinVar Annotator: match by term: Pelviscapular dysplasia
CTD
ClinVar
OMIM
PMID:19068278 PMID:25741868 NCBI chr 2:186,576,347...186,687,748
Ensembl chr 2:186,576,676...186,687,663
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cousin Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                Cousin Syndrome 1
paths to the root