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. [ Orphanet:79276 ]
Synonyms: AIP - acute intermittent porphyria pyrroloporphyria acute intermittent porphyria porphyria intermittent acute
Term information
- NORD:729 (MONDO:NORD)
- NCIT:C84536 (MONDO:equivalentTo)
- Orphanet:79276 (OMIM:176000)
- SCTID:234422006 (MONDO:equivalentTo)
- UMLS:C0162565 (Orphanet:79276/e)
- GARD:5732 (Orphanet:79276)
- DOID:3890 (MONDO:equivalentTo)
- MESH:D017118 (Orphanet:79276/e)
- OMIM:176000 (Orphanet:79276/e)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://identifiers.org/mesh/D017118
http://purl.obolibrary.org/obo/NCIT_C84536
http://purl.obolibrary.org/obo/DOID_3890
http://identifiers.org/snomedct/234422006
https://omim.org/entry/176000
http://www.orpha.net/ORDO/Orphanet_79276
http://linkedlifedata.com/resource/umls/id/C0162565
porphobilinogen deaminase deficiency
UPS deficiency
porphyria, Chester type
hydroxymethylbilane synthase deficiency
porphyria, acute intermittent
PBGD deficiency
uroporphyrinogen synthase deficiency
AIP
porphyria, Swedish type
HMBS deficiency
porphyria, acute intermittent, Nonerythroid variant