Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Alkaptonuria
Synonyms

Homogentisic Acidura
Definitions

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.
ID

http://purl.bioontology.org/ontology/MESH/D000474
altLabel

Homogentisic Acidura

Alcaptonuria

Homogentisic Acid Oxidase Deficiency

Alcaptonurias
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
cui

C0002066
DC

1
definition

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.
DX

19660101
FX

D050560
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D014556

http://purl.bioontology.org/ontology/MESH/D050560
Mapped from

http://purl.bioontology.org/ontology/MESH/C531762
MDA

19990101
MMR

20130708
MN

C16.320.565.100.187

C18.452.648.100.187
notation

D000474
prefLabel

Alkaptonuria
TERMUI

T840854

T001410

T727008

T811409
TH

OMIM (2013)

NLM (1966)

NLM (2012)

GHR (2014)

NLM (2014)

ORD (2010)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D000592
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10088000 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/360378009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10001689 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D000474 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2180 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000357 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/607474 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10001689 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/203500 OMIM CUI
http://purl.bioontology.org/ontology/RCD/XE116 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.29 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10088000 MDRGER CUI
http://purl.bioontology.org/ontology/WHO/1118 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRFRE/10088000 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/URIN%20ABNORM COSTART CUI
http://purl.bioontology.org/ontology/SCTSPA/360378009 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/1118 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10001689 MDRGER CUI
http://purl.obolibrary.org/obo/MONDO_0008753 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008753 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_9270 DOID LOOM
http://www.limics.org/hrdo/rdfns#pat_id_411 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008753 DOVES LOOM
http://id.nlm.nih.gov/mesh/D000474 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.187 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000474 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9270 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000519 DERMO LOOM
http://purl.obolibrary.org/obo/DOID_9270 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9270 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9270 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9270 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9270 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#903 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A2180 SNMI LOOM
http://purl.bioontology.org/ontology/RCTV2/C302000 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.187 RH-MESH LOOM
http://www.gamuts.net/entity#alkaptonuria GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10001689 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/203500 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84546 NCIT LOOM
http://purl.jp/bio/4/id/200906065243413908 IOBC LOOM
http://identifiers.org/omim/203500 REXO LOOM
http://identifiers.org/omim/203500 GEXO LOOM
http://identifiers.org/omim/203500 RETO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15065 DERMLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alkaptonuria CSEO LOOM
http://www.projecthalo.com/aura#Alkaptonuria AURA LOOM
http://purl.obolibrary.org/obo/OMIM_203500 CCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002066 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_56 ORDO LOOM
http://purl.bioontology.org/ontology/WHO/1118 WHO-ART LOOM
http://purl.obolibrary.org/obo/NCIT_C84546 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0001895 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036641 PMAPP-PMO LOOM