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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acute_Intermittent_Porphyria
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acute_Intermittent_Porphyria
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|---|---|
| Preferred Name | Acute Intermittent Porphyria |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Acute Intermittent Porphyria
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|---|---|
| prefLabel |
Acute Intermittent Porphyria
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| DEFINITION |
A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.
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| Synonym |
Porphyria, Acute Intermittent
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| isDefinedBy |
A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.
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| prefixIRI |
Thesaurus:Acute_Intermittent_Porphyria
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| subClassOf | |
| FULL_SYN |
Porphyria, Acute Intermittent
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| type |
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