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 |
|
| database_cross_reference |
Orphanet:79276 NCIT:C84536 DOID:3890 SCTID:234422006 NORD:729 UMLS:C0162565 OMIM:176000 GARD:5732 MESH:D017118 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_3890 http://linkedlifedata.com/resource/umls/id/C0162565 http://purl.obolibrary.org/obo/NCIT_C84536 http://purl.obolibrary.org/obo/Orphanet_79276 |
|
| has material basis in germline mutation in | ||
| 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 |
|
| id |
MONDO:0008294 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
acute intermittent porphyria |
|
| notation |
MONDO:0008294 |
|
| prefLabel |
acute intermittent porphyria |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0019142 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019142 |