About: Alpha-1 Antitrypsin Deficiency     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Alpha-1 Antitrypsin Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Alpha-1 Antitrypsin Deficiency
UMLS_CUI
  • C0221757
Contributing_Source
  • NICHD
FULL_SYN
  • A1ADABNCI
  • A-1ATDABNCI
  • Alpha-1 Antitrypsin DeficiencySYNCITCGA
  • Alpha-1 Antitrypsin DeficiencyPTNCI
  • Alpha-1-Antitrypsin DeficiencyPTNICHD
DEFINITION
  • A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.NCI
code
  • C84397
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