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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:Scheuermann's disease
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Accession:DOID:13300 term browser browse the term
Definition:An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. (DO)
Synonyms:exact_synonym: Adolescent Kyphosis;   Juvenile Kyphosis;   Juvenile Osteochondrosis of Spine;   Scheuermann Juvenile Kyphosis;   Scheuermann Kyphoses;   Scheuermann Kyphosis;   Scheuermann disease;   Scheuermann juvenile kyphoses;   Scheuermann's kyphoses;   Scheuermann's kyphosis;   Scheuermanns Disease;   Scheuermanns kyphosis;   Sherman's disease;   adolescent kyphoses;   juvenile kyphoses;   juvenile osteochondritis of the spine;   juvenile osteochondrosis of Scheurermann;   spine juvenile osteochondroses;   spine juvenile osteochondrosis
 primary_id: MESH:D012544
 alt_id: OMIM:181440
 xref: GARD:7610;   ICD10CM:M42.0;   ICD10CM:M42.00;   ICD9CM:732.0;   NCI:C34999
For additional species annotation, visit the Alliance of Genome Resources.



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Scheuermann's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member B ISS OMIM:181440 MouseDO NCBI chr 8:122,810,091...122,817,039
Ensembl chr 8:122,810,149...122,815,835
JBrowse link
G Nfix nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      musculoskeletal system disease 6447
        bone disease 3116
          osteochondrosis 6
            Spinal Osteochondrosis 2
              Scheuermann's disease 2
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      musculoskeletal system disease 6447
        connective tissue disease 4433
          bone disease 3116
            spinal disease 926
              bone structure disease 85
                Spinal Curvatures 56
                  Kyphosis 15
                    Scheuermann's disease 2
paths to the root