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RGD uses the Human Disease Ontology (DO, 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
PMID:19068278 NCBI chr 2:201,289,042...201,390,752
Ensembl chr 2:201,289,357...201,390,745
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Cousin Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                Cousin Syndrome 1
paths to the root