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ONTOLOGY REPORT - ANNOTATIONS


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
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Steel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col27a1 collagen type XXVII alpha 1 chain JBrowse link 5 79,054,004 79,172,442 RGD:7240710
RGD:8554872

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Path 1
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  disease 15553
    syndrome 5224
      Steel Syndrome 1
Path 2
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        Congenital Abnormalities 3730
          Musculoskeletal Abnormalities 1340
            Steel Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.