About: Pipecolic acidemia

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect

Attributes	Values
rdf:type	Item
owl:sameAs	Pipecolic acidemia
description	a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect (en)
health specialty	wds:Q7197254-071A3E30-2118-4870-B5C2-A8FEBDF33A69 wds:Q7197254-495695C6-9342-4EBC-BE6D-858A9F68C93C
health specialty	endocrinology medical genetics
rdfs:label	Pipecolic acidemia (en) acidémie pipécolique (fr)
skos:prefLabel	Pipecolic acidemia (en) acidémie pipécolique (fr)
name	Pipecolic acidemia (en) acidémie pipécolique (fr)
instance of	wds:Q7197254-650B787C-C5D1-4058-BBA6-C3D2A7C66DAA
instance of	class of disease
subclass of	wds:Q7197254-14df7d09-4748-34ad-0173-29423e614c3f wds:Q7197254-c3b27f09-469b-5160-f173-eb43611ca459
subclass of	Zellweger spectrum disorder peroxisomal disease
Orphanet ID	wds:Q7197254-ab08dda6-47c1-9e11-dd0d-8961777296a8
OMIM ID	wds:q7197254-6F6A26EA-94ED-454B-AEB4-0297EBC9C9FC
Orphanet ID	34
OMIM ID	239400
ICD-9 ID	wds:q7197254-C137E28B-41BE-403A-9C7D-C4850722D95F
ICD-9 ID	270.7
skos:altLabel	Hyperpipecolatemia (en) Hyperpipécolatémie (fr) hyperpipecolic acidemia (en)
NCI Thesaurus ID	wds:Q7197254-0fdd3491-4498-630b-c201-4ee02ffd8255
UMLS CUI	wds:Q7197254-6f6c8e91-4249-5f16-a003-1df40ec91329
Microsoft Academic ID	wds:Q7197254-5B9C6F70-5268-407E-AFFB-1C7BB4357D09
ICD-11 (foundation)	wds:Q7197254-23312b88-4b57-5e24-6d1a-a382fcd5ec31
Microsoft Academic ID	https://makg.org/entity/2777870066
NCI Thesaurus ID	C125593
UMLS CUI	C0268537
Microsoft Academic ID	2777870066
ICD-11 (foundation)	535493681
is about of	Pipecolic acidemia https://www.wikidata.org/wiki/Special:EntityData/Q7197254 Pipecolic acidemia
is main subject of	Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution The significance of hyperpipecolatemia in Zellweger syndrome Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations Experimental maternal hyperpipecolatemia decreases DNA in the mouse brain.
is main subject of	wds:Q28368184-C474A205-53B1-4631-8669-E6210E1D4EF6 wds:Q35200897-88298636-9946-4365-B6FC-5D70950AA00B wds:Q48593495-25B655AD-23DD-4E0E-8C9C-8969FB1C94FC wds:Q28340869-0054BE6B-5EC6-413C-AB5C-A7207FCF7ECE wds:Q73262989-E656B24D-C0A7-4011-A480-8AF30561390F wds:Q44971224-5F694836-0EEC-4368-BC2B-0895F4F4B142 wds:Q35934763-458ADA44-7F67-47AB-BBFB-ABB20D22D37C wds:Q48422847-57632E45-533B-49B2-9831-68A819F4431C wds:Q42270073-27FDB163-1DE7-4E40-A538-8441C75351B3
is established from medical condition of	GM03605
is established from medical condition of	wds:Q54838155-1A70AC5C-A00A-4630-894F-63D7A9CCC73D

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