loading...| Preferred Name |
acute intermittent porphyria |
|
| Synonyms |
porphyria, acute intermittent porphyria, Chester type PBGD deficiency HMBS deficiency porphobilinogen deaminase deficiency hydroxymethylbilane synthase deficiency uroporphyrinogen synthase deficiency porphyria, Swedish type AIP porphyria, acute intermittent, Nonerythroid variant UPS deficiency pyrroloporphyria porphyria intermittent acute AIP - acute intermittent porphyria acute intermittent porphyria |
|
| Definitions |
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008294 |
|
| altLabel |
porphyria, acute intermittent porphyria, Chester type PBGD deficiency HMBS deficiency porphobilinogen deaminase deficiency hydroxymethylbilane synthase deficiency uroporphyrinogen synthase deficiency porphyria, Swedish type AIP porphyria, acute intermittent, Nonerythroid variant UPS deficiency pyrroloporphyria porphyria intermittent acute AIP - acute intermittent porphyria acute intermittent porphyria |
|
| definition |
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. |
|
| has_exact_synonym |
pyrroloporphyria porphyria intermittent acute AIP - acute intermittent porphyria acute intermittent porphyria |
|
| has_related_synonym |
porphyria, acute intermittent porphyria, Chester type PBGD deficiency HMBS deficiency porphobilinogen deaminase deficiency hydroxymethylbilane synthase deficiency uroporphyrinogen synthase deficiency porphyria, Swedish type AIP porphyria, acute intermittent, Nonerythroid variant UPS deficiency |
|
| label |
acute intermittent porphyria |
|
| prefixIRI |
MONDO:0008294 |
|
| prefLabel |
acute intermittent porphyria |
|
| textual definition |
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019142 |