About: Alkaptonuria     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Alkaptonuria
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Alkaptonuria
UMLS_CUI
  • C0002066
FULL_SYN
  • AlkaptonuriaPTNCI
DEFINITION
  • A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones.NCI
code
  • C84546
http://linked.open...y/mesh/hasConcept
is sameAs of
Faceted Search & Find service v1.16.121 as of Mar 31 2025


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 14 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software