Terminology Service for NFDI4Health
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Instance info
Synonyms
Alcaptonuria, Alcaptonurias, Homogentisic Acid Oxidase Deficiency, Alkaptonurie (DE), Homogentisic Acidura
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
19660101
FX
D050560
MDA
19990101
MMR
20130708
MN
C18.452.648.100.187,C16.320.565.100.187
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
RO
http://purl.bioontology.org/ontology/MESH/D014556,http://purl.bioontology.org/ontology/MESH/D050560
SIB
http://purl.bioontology.org/ontology/MESH/D009100,http://purl.bioontology.org/ontology/MESH/D010661,http://purl.bioontology.org/ontology/MESH/D020167,http://purl.bioontology.org/ontology/MESH/D008375,http://purl.bioontology.org/ontology/MESH/D020176,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D054069,http://purl.bioontology.org/ontology/MESH/D020138,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D020158,http://purl.bioontology.org/ontology/MESH/D056693,http://purl.bioontology.org/ontology/MESH/D056806
TERMUI
T727008,T001410,T840854,T811409
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (1966),NLM (2014),NLM (2012)
cui
C0002066
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C531762
tui
T047
Instance relations
Types