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alkaptonuria

^ http://purl.obolibrary.org/obo/MONDO_0008753

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 ]

Term info

database cross reference
  • MedDRA:10001689 (Orphanet:56/e)
  • OMIM:203500 (Orphanet:56/e)
  • ICD9:270.2 (MONDO:relatedTo)
  • Orphanet:56 (OMIM:203500)
  • MESH:D000474 (Orphanet:56/e)
  • UMLS:C2931645 (Orphanet:56/e)
  • UMLS:C0002066 (Orphanet:56/e)
  • GARD:0005775 (MONDO:equivalentTo)
  • DOID:9270 (MONDO:equivalentTo)
  • SCTID:360378009 (MONDO:equivalentTo)
  • NCIT:C84546 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10001689

definition

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).

exactMatch

http://identifiers.org/mesh/D000474, http://purl.obolibrary.org/obo/DOID_9270, http://linkedlifedata.com/resource/umls/id/C2931645, http://identifiers.org/snomedct/360378009, https://omim.org/entry/203500, http://purl.obolibrary.org/obo/NCIT_C84546, http://linkedlifedata.com/resource/umls/id/C0002066, http://purl.obolibrary.org/obo/Orphanet_56

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005093, http://purl.obolibrary.org/obo/MONDO_0020203

has exact synonym

homogentisate 1,2-dioxygenase deficiency, hereditary ochronosis, alcaptonuria, homogentisic acid oxidase deficiency, alkaptonuria

has related synonym

homogentisic acidura, deficiency of homogentisicase, aku, ochronosis, hereditary, alkaptonuric ochronosis

id

MONDO:0008753

seeAlso

https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria

Term relations