Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Acute intermittent porphyria
Synonyms

AIP

Definitions

(AIP) - A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

ID

http://identifiers.org/omim/176000

altLabel

AIP

definition

(AIP) - A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

id

OMIM:176000

notation

OMIM:176000

prefLabel

Acute intermittent porphyria

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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http://identifiers.org/omim/176000 REXO SAME_URI
http://identifiers.org/omim/176000 RETO SAME_URI
http://purl.obolibrary.org/obo/DOID_3890 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008294 MONDO LOOM
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://purl.bioontology.org/ontology/SNMI/D6-88310 SNMI 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 DOVES LOOM
http://identifiers.org/omim/176000 REXO LOOM
http://identifiers.org/omim/176000 RETO LOOM