loading...| Preferred Name | Acute Intermittent Porphyria | |
| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84536 |
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| code |
C84536 |
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| Contributing_Source |
Cellosaurus |
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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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| in_subset | ||
| label |
Acute Intermittent Porphyria |
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| Preferred_Name |
Acute Intermittent Porphyria |
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| prefixIRI |
NCIT:C84536 |
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| prefLabel |
Acute Intermittent Porphyria |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0162565 |
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| subClassOf |