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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: COL27A1-RELATED CONDITION;   DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE;   STLS
 primary_id: MIM:615155


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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: COL27A1-related condition | ClinVar Annotator: match by term: Steel syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24986830 PMID:25741868 More... NCBI chr 5:81,662,822...81,781,502
Ensembl chr 5:76,647,429...76,765,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Steel Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        Congenital Abnormalities 7887
          Musculoskeletal Abnormalities 3456
            Steel Syndrome 1
paths to the root