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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:Steel Syndrome
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Accession:DOID:9007513 term browser browse the term
Definition:Steel syndrome (STLS) is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. STLS is caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. (OMIM)
Synonyms:exact_synonym: DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE;   STLS
 primary_id: OMIM:615155;   RDO:9000440
For additional species annotation, visit the Alliance of Genome Resources.



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Steel Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col27a1 collagen type XXVII alpha 1 chain ISO ClinVar Annotator: match by term: Steel syndrome OMIM
ClinVar
PMID:24986830 PMID:25741868 PMID:28276056 PMID:28322503 PMID:28492532 More... NCBI chr 5:76,647,302...76,765,987
Ensembl chr 5:76,647,429...76,765,174
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Steel Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Steel Syndrome 1
paths to the root