A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. [ NCIT:P378 ]
Synonyms: ochronosis
Term information
- DOID:14223 (MONDO:equivalentTo)
- MESH:D009794 (MONDO:equivalentTo)
- SCTID:410042009 (MONDO:equivalentTo)
- MEDGEN:45177 (MONDO:equivalentTo)
- UMLS:C0028817 (MONDO:equivalentTo)
- ICD9:270.2 (MONDO:relatedTo)
- HP:0030764 (MONDO:otherHierarchy)
- NCIT:C84938 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, harrisons_view_connective_tissue_disorder, matrix_excluded, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, harrisons_view_member, harrisons_view_musculoskeletal_system_disorder, mondo_top_grouping_connective_tissue_disorder, harrisons_view_metabolic_disease
http://purl.obolibrary.org/obo/DOID_14223
http://purl.obolibrary.org/obo/NCIT_C84938
http://identifiers.org/mesh/D009794
http://linkedlifedata.com/resource/umls/id/C0028817
http://identifiers.org/snomedct/410042009
http://identifiers.org/medgen/45177
Term relations
- [X] metabolic disease and disease caused by disruption of some homogentisate metabolic process and disease has location some cartilage tissue and disease has feature some Ochronosis