About: peroxisomal disease

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inherited metabolic disorder that involves peroxisome malfunction

Attributes	Values
rdf:type	Item
owl:sameAs	peroxisomal disease
description	Krankheit (de) хвороба (uk) trastorno metabólico hereditario que se caracteriza por un mal funcionamiento de las enzimas del peroxisoma (es) inherited metabolic disorder that involves peroxisome malfunction (en) trastorn metabòlic hereditari que es caracteritza per un mal funcionament dels enzims del peroxisoma (ca)
exact match	wds:Q3281322-4A1C4D72-1C06-46F2-AEA8-1AFB6482D49B wds:Q3281322-9EA9614D-0512-4A07-B7B5-AA95CC304A91
exact match	http://purl.obolibrary.org/obo/DOID_906 http://identifiers.org/doid/DOID:906
health specialty	wds:Q3281322-AC71AD82-94C2-4E25-854F-652175CD58AC
drug or therapy used for treatment	wds:Q3281322-99D24C82-2B53-4BE0-AC3D-E81CCBFCDDBB wds:Q3281322-C6FD4963-B709-4D33-B586-FF6ED54A321C
Disease Ontology ID	wds:Q3281322-244A54B1-53C9-4D85-BDE7-B9BF5FE39104
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:906
health specialty	endocrinology
drug or therapy used for treatment	wd:Q287415
Disease Ontology ID	DOID:906
rdfs:label	Peroxisomale Krankheit (de) enfermedad peroxisomal (es) maladie de la fonction peroxysomale (fr) malaltia peroxisomal (ca) peroksisomal sjukdom (nn) peroksisomska bolezen (sl) peroxisomal disease (en) пероксисомная патология (ru) مرض بيروكسيزومي (ar)
skos:prefLabel	Peroxisomale Krankheit (de) enfermedad peroxisomal (es) maladie de la fonction peroxysomale (fr) malaltia peroxisomal (ca) peroksisomal sjukdom (nn) peroksisomska bolezen (sl) peroxisomal disease (en) пероксисомная патология (ru) مرض بيروكسيزومي (ar)
name	Peroxisomale Krankheit (de) enfermedad peroxisomal (es) maladie de la fonction peroxysomale (fr) malaltia peroxisomal (ca) peroksisomal sjukdom (nn) peroksisomska bolezen (sl) peroxisomal disease (en) пероксисомная патология (ru) مرض بيروكسيزومي (ar)
instance of	wds:Q3281322-0DEDC899-4600-440E-B687-6DE5EA346A6F wds:Q3281322-662550E4-DDEC-419A-8BAC-837CCCEBEEA2
instance of	class of disease designated intractable/rare disease
subclass of	wds:Q3281322-2CD0C7CC-26F2-450C-8C21-D4D46C8DE242
subclass of	inherited metabolic disorder
eMedicine ID	wds:Q3281322-4DC33FF2-9619-43AE-AE9F-46FD5DF36C60
eMedicine ID	1177387
Encyclopædia Britannica Online ID	wds:Q3281322-EC492D18-C764-4167-A834-0C72F30338E9
Encyclopædia Britannica Online ID	topic/peroxisomal-disorder
Orphanet ID	wds:Q3281322-1B297D91-2069-4C82-A9AB-2C9B929A7F51
ICD-9-CM	wds:Q3281322-01E95DD1-F29B-4B05-BF14-970C8257EF27
ICD-10-CM	wds:Q3281322-A25E2F49-7D02-43B5-959E-09718425F6C5 wds:Q3281322-CBB76EC0-C57C-4A00-A682-0DD6A0E28564
GARD rare disease ID	wds:Q3281322-69631142-29D2-49BD-AF7F-71CEC60F89D6
Orphanet ID	68373
ICD-9-CM	277.86
ICD-10-CM	E71.5 E71.50
GARD rare disease ID	8398
afflicts	wds:Q3281322-0052a366-48e7-b234-fb23-68d65e9f04a5
afflicts	peroxisome
skos:altLabel	Peroxisomal disorders (en) peroxisome biogenesis disorder (en) Maladie De La Fonction Peroxysomale (fr) Maladie péroxysomale (fr) peroksysomal sjukdom (nn) peroxisomal disorder (en) trastorn peroxisomal (ca) trastorno peroxisomal (es)
OpenAlex ID	wds:Q3281322-5ECEB1E0-7C74-4E51-AD4F-80FCFE5A03D5
external data available at URL	wds:Q3281322-7F5936A3-EB4D-4345-BF29-E0690CA1CF69
NCI Thesaurus ID	wds:Q3281322-89BB1AFB-5C90-4A6F-B8F2-6289B20D732F
UMLS CUI	wds:Q3281322-2B009B50-87B1-444E-B2B4-1030B6867D6E wds:Q3281322-92A03C63-0A17-47A5-9147-E57AA27B64BD
MeSH descriptor ID	wds:Q3281322-D96789B2-817D-4C65-8EAE-EF8AE93E96B5
on focus list of Wikimedia project	wds:Q3281322-2B600D15-CD23-4640-9083-7F0A18BCE027
Microsoft Academic ID	wds:Q3281322-2E9BA7B7-96C5-4F79-A323-1B631293D270
MeSH tree code	wds:Q3281322-734F3E91-162B-48B4-8B60-B94CCAA25C28 wds:Q3281322-7D92604E-25C7-4952-B48E-9C148A91AD63
ICD-11 ID (MMS)	wds:Q3281322-39984BAF-CC19-4FE6-B082-ABC1979060D8
ICD-11 (foundation)	wds:Q3281322-A068FFA3-9DA8-4964-86DF-1E07B7501B58
topic's main category	wds:Q3281322-8d4b8e3f-e981-4a6d-9ac9-9afee16881a9
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D018901
Microsoft Academic ID	https://makg.org/entity/2781317408
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.320.565.663 http://id.nlm.nih.gov/mesh/C18.452.648.663
OpenAlex ID	C2781317408
external data available at URL	http://www.nanbyou.or.jp/entry/4621
NCI Thesaurus ID	C85005
UMLS CUI	C0282528 C5681330
MeSH descriptor ID	D018901
on focus list of Wikimedia project	WikiProject Medicine

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