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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, familial infantile type;   osteochondrosis deformans tibiae;   osteochondrosis deformans tibiae, adolescent;   tibia vara;   tibia vara, adolescent
 primary_id: MESH:C536237
 alt_id: OMIM:188700;   OMIM:259200;   RDO:0001730
 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 17207
    Developmental Disease 10923
      bone development disease 1414
        Blount's disease 0
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                Blount's disease 0
paths to the root