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- B057d03763f4c53cea9e4bb6417620a1f hasDbXref "Orphanet:56" @default.
- B057d03763f4c53cea9e4bb6417620a1f type Axiom @default.
- B057d03763f4c53cea9e4bb6417620a1f annotatedProperty IAO_0000115 @default.
- B057d03763f4c53cea9e4bb6417620a1f annotatedSource MONDO_0008753 @default.
- B057d03763f4c53cea9e4bb6417620a1f annotatedTarget "A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." @default.