Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D017118 http://purl.bioontology.org/ontology/MESH/D017118
Preferred Name	Porphyria, Acute Intermittent
Definitions	An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Synonyms	Acute Porphyria Type Porphyrias, Swedish Acute Intermittent Porphyria Porphyrias, Acute Intermittent Swedish Type Porphyria Synthase Deficiencies, Uroporphyrinogen Deficiencies, Uroporphyrinogen Synthase Intermittent Porphyria, Acute Porphyria, Swedish Type Uroporphyrinogen Synthase Deficiency Type Porphyria, Swedish PBGD Deficiencies Swedish Type Porphyrias Acute Porphyrias Deficiency, Hydroxymethylbilane Synthase Synthase Deficiencies, Hydroxymethylbilane Deficiencies, Porphobilinogen Deaminase UPS Deficiencies Deficiencies, PBGD Synthase Deficiency, Hydroxymethylbilane Deficiencies, Hydroxymethylbilane Synthase Deficiency, Porphobilinogen Deaminase Intermittent Porphyrias, Acute Synthase Deficiency, Uroporphyrinogen Deficiency, UPS Hydroxymethylbilane Synthase Deficiencies UPS Deficiency Porphyria, Acute PBGD Deficiency Hydroxymethylbilane Synthase Deficiency Porphobilinogen Deaminase Deficiency Deaminase Deficiency, Porphobilinogen Porphyrias, Acute Deficiencies, UPS Porphyrias, Swedish Type Deaminase Deficiencies, Porphobilinogen Deficiency, Uroporphyrinogen Synthase Porphobilinogen Deaminase Deficiencies Deficiency, PBGD Acute Intermittent Porphyrias Uroporphyrinogen Synthase Deficiencies See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
altLabel	Acute Porphyria Type Porphyrias, Swedish Acute Intermittent Porphyria Porphyrias, Acute Intermittent Swedish Type Porphyria Synthase Deficiencies, Uroporphyrinogen Deficiencies, Uroporphyrinogen Synthase Intermittent Porphyria, Acute Porphyria, Swedish Type Uroporphyrinogen Synthase Deficiency Type Porphyria, Swedish PBGD Deficiencies Swedish Type Porphyrias Acute Porphyrias Deficiency, Hydroxymethylbilane Synthase Synthase Deficiencies, Hydroxymethylbilane Deficiencies, Porphobilinogen Deaminase UPS Deficiencies Deficiencies, PBGD Synthase Deficiency, Hydroxymethylbilane Deficiencies, Hydroxymethylbilane Synthase Deficiency, Porphobilinogen Deaminase Intermittent Porphyrias, Acute Synthase Deficiency, Uroporphyrinogen Deficiency, UPS Hydroxymethylbilane Synthase Deficiencies UPS Deficiency Porphyria, Acute PBGD Deficiency Hydroxymethylbilane Synthase Deficiency Porphobilinogen Deaminase Deficiency Deaminase Deficiency, Porphobilinogen Porphyrias, Acute Deficiencies, UPS Porphyrias, Swedish Type Deaminase Deficiencies, Porphobilinogen Deficiency, Uroporphyrinogen Synthase Porphobilinogen Deaminase Deficiencies Deficiency, PBGD Acute Intermittent Porphyrias Uroporphyrinogen Synthase Deficiencies See more See less
prefLabel	Porphyria, Acute Intermittent
TH	OMIM (2013) NLM (1993) NLM (2010) ORD (2010)
notation	D017118
DX	19930101
Machine permutation	1993
MN	C18.452.811.400.150 C16.320.850.742.150 C06.552.830.150 C17.800.827.742.150
FX	D011163
MMR	20150605
Mapped from	http://purl.bioontology.org/ontology/MESH/C566769
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN	1993
subClassOf	http://purl.bioontology.org/ontology/MESH/D017094
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19920522
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D011163
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C2936779 C0162565
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T752478 T812304 T752479 T051121 T824207 T812305 T051120 T824208 See more See less

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