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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:Blount's disease
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Accession:DOID:14798 term browser browse the term
Definition:An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. (DO)
Synonyms:exact_synonym: Blount disease;   Blount disease, adolescent;   osteochondrosis deformans tibiae;   osteochondrosis deformans tibiae, adolescent;   osteochondrosis deformans tibiae, familial infantile type;   tibia vara;   tibia vara, adolescent
 primary_id: MESH:C536237
 alt_id: OMIM:188700;   OMIM:259200
 xref: GARD:916
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        Blount's disease 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                Blount's disease 0
paths to the root