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). [ Orphanet:56 ]
Synonyms: homogentisate 1,2-dioxygenase deficiency hereditary ochronosis alcaptonuria homogentisic acid oxidase deficiency alkaptonuria
Term information
- ICD9:270.2 (MONDO:relatedTo)
- Orphanet:56 (OMIM:203500)
- SCTID:360378009 (MONDO:equivalentTo)
- NORD:750 (MONDO:NORD)
- MedDRA:10001689 (Orphanet:56/e)
- GARD:5775 (Orphanet:56)
- NCIT:C84546 (MONDO:equivalentTo)
- MESH:D000474 (Orphanet:56/e)
- DOID:9270 (MONDO:equivalentTo)
- OMIM:203500 (Orphanet:56/e)
- UMLS:C0002066 (Orphanet:56/e)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/4985
https://github.com/monarch-initiative/mondo/issues/5682
http://identifiers.org/mesh/D000474
http://purl.obolibrary.org/obo/DOID_9270
http://identifiers.org/snomedct/360378009
http://www.orpha.net/ORDO/Orphanet_56
https://omim.org/entry/203500
http://purl.obolibrary.org/obo/NCIT_C84546
http://linkedlifedata.com/resource/umls/id/C0002066
http://purl.obolibrary.org/obo/MONDO_0005093
http://purl.obolibrary.org/obo/MONDO_0020203
deficiency of homogentisicase
homogentisic acidura
aku
ochronosis, hereditary
alkaptonuric ochronosis
https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria
https://search.clinicalgenome.org/kb/conditions/MONDO:0008753