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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: MIM:260660;   RDO:0000731;   RDO:0008442

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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 ClinVar Annotator: match by term: Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature | ClinVar Annotator: match by term: Pelviscapular dysplasia OMIM
ClinVar		 PMID:19068278 PMID:25741868 PMID:28492532 NCBI chrNW_004624772:14,483,951...14,611,602
Ensembl chrNW_004624772:14,482,948...14,611,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    syndrome 9307
      Cousin Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      musculoskeletal system disease 7244
        connective tissue disease 4918
          bone disease 3623
            bone development disease 2145
              dysostosis 534
                Cousin Syndrome 1
paths to the root