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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:ochronosis
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Accession:DOID:14223 term browser browse the term
Definition:A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. (DO)
Synonyms:exact_synonym: ochronoses
 primary_id: MESH:D009794
 xref: GARD:7231;   ICD10CM:E70.29;   NCI:C84938
For additional species annotation, visit the Alliance of Genome Resources.


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Alkaptonuric Ochronosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgd homogentisate 1, 2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuric ochronosis ClinVar PMID:10205262 PMID:10482952 PMID:12501223 PMID:16199547 PMID:19862842 More... NCBI chr11:76,592,202...76,643,776
Ensembl chr11:76,592,204...76,643,767 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Pathologic Processes 5472
        ochronosis 1
          Alkaptonuric Ochronosis 1
          Hereditary Ochronosis 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          ochronosis 1
            Alkaptonuric Ochronosis 1
            Hereditary Ochronosis 0
paths to the root