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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.


show annotations for term's descendants           Sort by:
 
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
CTD
ClinVar
OMIM
PMID:19068278 NCBI chr 2:201,289,042...201,390,752
Ensembl chr 2:201,289,357...201,390,745
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Cousin Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                Cousin Syndrome 1
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.