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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:12501223 PMID:16199547 PMID:19862842 PMID:25741868 PMID:28492532 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
Hereditary 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: Ochronosis, hereditary ClinVar PMID:12501223 PMID:16199547 PMID:19862842 PMID:25741868 PMID:28492532 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Pathological Conditions, Signs and Symptoms 13529
      Pathologic Processes 8238
        ochronosis 1
          Alkaptonuric Ochronosis 1
          Hereditary Ochronosis 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      musculoskeletal system disease 8477
        connective tissue disease 5951
          ochronosis 1
            Alkaptonuric Ochronosis 1
            Hereditary Ochronosis 1
paths to the root