loading...| Preferred Name |
acute intermittent porphyria |
|
| Synonyms |
PBGD deficiency hydroxymethylbilane synthase deficiency porphyria, acute intermittent UPS deficiency porphyria, Swedish type porphyria, acute intermittent, Nonerythroid variant uroporphyrinogen synthase deficiency porphobilinogen deaminase deficiency porphyria, Chester type HMBS deficiency AIP porphyria intermittent acute pyrroloporphyria acute intermittent porphyria AIP - 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 |
NANDO:1200812 Orphanet:79276 UMLS:C0162565 MESH:D017118 SCTID:234422006 NANDO:2201263 OMIM:176000 NCIT:C84536 DOID:3890 GARD:5732 NORD:729 |
|
| 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_exact_synonym |
porphyria intermittent acute pyrroloporphyria acute intermittent porphyria AIP - acute intermittent porphyria |
|
| has_related_synonym |
PBGD deficiency hydroxymethylbilane synthase deficiency porphyria, acute intermittent UPS deficiency porphyria, Swedish type porphyria, acute intermittent, Nonerythroid variant uroporphyrinogen synthase deficiency porphobilinogen deaminase deficiency porphyria, Chester type HMBS deficiency AIP |
|
| id |
MONDO:0008294 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
acute intermittent porphyria |
|
| notation |
MONDO:0008294 |
|
| preferred label |
acute intermittent porphyria |
|
| prefLabel |
acute intermittent porphyria |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019142 |