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Preferred Name

Acute intermittent porphyria
Synonyms

Pyrroloporphyria

Acute porphyria

Intermittent acute porphyria syndrome

Uroporphyrinogen 1 synthase deficiency

Swedish porphyria

PBGD deficiency

Porphobilinogen deaminase deficiency
ID

http://purl.bioontology.org/ontology/SNMI/D6-88310
altLabel

Pyrroloporphyria

Acute porphyria

Intermittent acute porphyria syndrome

Uroporphyrinogen 1 synthase deficiency

Swedish porphyria

PBGD deficiency

Porphobilinogen deaminase deficiency
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-6C828
cui

C2936779

C0162565
notation

D6-88310
prefLabel

Acute intermittent porphyria
SIC

277.1
SMX

(M-27000) (F-6C828)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-88000
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D017118 MESH CUI
http://purl.bioontology.org/ontology/MESH/D017118 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D017118 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/276263005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/176000 OMIM CUI
http://purl.bioontology.org/ontology/RCD/Xa01K RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/276263005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D017118 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003536 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10000818 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10000818 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10000818 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C3712 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234422006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-7674 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0944-4849 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10036182 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/176000 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/609806 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10036182 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/234422006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10036182 MDRFRE CUI
rgo:05628 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84536 NCIT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14451 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_1200812 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000818 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3890 NATPRO LOOM
http://purl.bioontology.org/ontology/RCD/C3712 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/234422006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_3890 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3890 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3890 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3890 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3890 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3890 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3890 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162565 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acute_Intermittent_Porphyria CSEO LOOM
http://purl.obolibrary.org/obo/DERMO_0002708 DERMO LOOM
http://www.co-ode.org/ontologies/galen#AcuteIntermittentPorphyria GALEN LOOM
http://purl.bioontology.org/ontology/RCTV2/C371200 RCTV2 LOOM
http://www.orpha.net/ORDO/Orphanet_79276 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84536 BERO LOOM
http://nanbyodata.jp/ontology/NANDO_2201263 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_176000 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11302 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 DOVES LOOM
http://identifiers.org/omim/176000 REXO LOOM
http://identifiers.org/omim/176000 GEXO LOOM
http://identifiers.org/omim/176000 RETO LOOM