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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:Sprengel Deformity
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Accession:DOID:9003430 term browser browse the term
Synonyms:exact_synonym: High scapula;   Maladie de Sprengel familiale;   Sprengel's shoulder
 primary_id: MESH:C535802
 alt_id: OMIM:184400


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Sprengel Deformity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Sprengel's shoulder ClinVar PMID:25741868 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Sprengel's shoulder ClinVar PMID:25741868 NCBI chr17:43,530,919...43,537,999 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7500
          Sprengel Deformity 2
paths to the root