About: inborn errors of purine–pyrimidine metabolism

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inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism (en)
exact match	wds:Q3281375-5CF63FAD-0016-441E-92D8-A6C060E52414 wds:Q3281375-E3C7AF7E-D673-491A-9DD6-5D480996FA71 wds:Q3281375-F5F56BA2-9C00-4933-AA17-895E8C0CCC02
exact match	http://purl.obolibrary.org/obo/DOID_653 http://identifiers.org/doid/DOID:653 http://www.orpha.net/ORDO/Orphanet_79224
health specialty	wds:Q3281375-D0C26FA9-F6B4-4EB0-A71F-039919566F14
Mondo ID	wds:Q3281375-4DCEA814-CD17-43A8-BD9F-0EFB84F8D080
Disease Ontology ID	wds:Q3281375-3E86D325-B041-441D-B451-AB8A861F9A3D
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0019254
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:653
health specialty	endocrinology
Mondo ID	MONDO_0019254
Disease Ontology ID	DOID:653
rdfs:label	trastorno congénito del metabolismo purina-pirimidina (es) Недостаточность аденилосукцинат лиазы (ru) forstyrring i metabolismen av purin og pyrimidin (nn) inborn errors of purine–pyrimidine metabolism (en) prirojene napake purinsko-pirimidinske presnove (sl) maladie génétique du métabolisme des nucléotides (fr) trastorn congènit del metabolisme purina-pirimidina (ca) اضطراب استقلاب البورين والبيريميدين (ar)
skos:prefLabel	trastorno congénito del metabolismo purina-pirimidina (es) Недостаточность аденилосукцинат лиазы (ru) forstyrring i metabolismen av purin og pyrimidin (nn) inborn errors of purine–pyrimidine metabolism (en) prirojene napake purinsko-pirimidinske presnove (sl) maladie génétique du métabolisme des nucléotides (fr) trastorn congènit del metabolisme purina-pirimidina (ca) اضطراب استقلاب البورين والبيريميدين (ar)
name	trastorno congénito del metabolismo purina-pirimidina (es) Недостаточность аденилосукцинат лиазы (ru) forstyrring i metabolismen av purin og pyrimidin (nn) inborn errors of purine–pyrimidine metabolism (en) prirojene napake purinsko-pirimidinske presnove (sl) maladie génétique du métabolisme des nucléotides (fr) trastorn congènit del metabolisme purina-pirimidina (ca) اضطراب استقلاب البورين والبيريميدين (ar)
instance of	wds:Q3281375-E173632E-F8B7-401F-9465-900D722F2290
instance of	class of disease
subclass of	wds:Q3281375-2B3F9F08-0FCF-4282-ADDF-9B1EF4573588
subclass of	inherited metabolic disorder
Orphanet ID	wds:Q3281375-A2D014D3-0ECD-454F-971D-17674DDE6959
ICD-9-CM	wds:Q3281375-149FED17-BE8B-46F0-90A8-242ADBF12FDF
ICD-10-CM	wds:Q3281375-1CDCCF7D-5605-45AC-BDB4-A0B92470BF38 wds:Q3281375-91F45F46-7E34-4CDB-AC25-84C54A5CC596 wds:Q3281375-AC263D1A-342A-49CE-8F57-5731EC214902 wds:Q3281375-BC827A91-D4A6-435D-8853-3A60EF1717A4
Orphanet ID	79224
ICD-9-CM	277.2
ICD-10-CM	E79.8 E79.1 E79.0 E79.9
skos:altLabel	prirojene napake purinsko-pirimidinskega metabolizma (sl) Maladie Génétique Du Métabolisme Des Nucléotides (fr) Disorder of purine or pyrimidine metabolism (en) Maladie genetique du metabolisme des nucleotides (fr) Purine-Pyrimidine Metabolism, Inborn Errors (en) error innat del metabolisme purina-pirimidina (ca) error innato del metabolismo de purina-pirimidina (es) inborn errors of purine-pyrimidine metabolism (en) inborn purine-pyrimidine metabolic disorder (en) purine-pyrimidine metabolic disorder (en) malaltia congènita del metabolisme purina-pirimidina (ca) enfermedad congénita del metabolismo purina-pirimidina (es) erreurs innées du métabolisme de la purine et de la pyrimidine (fr)
UMLS CUI	wds:Q3281375-0BD057A7-55A9-46D2-8F82-EC85235AF473 wds:Q3281375-1EF9DB3E-A916-4FF6-9B2D-D84182BCE318 wds:Q3281375-9FDCE0AC-87B6-459B-8072-23A152EBF583
MeSH descriptor ID	wds:Q3281375-9D10CC0F-B317-4906-BDFA-6CD8721BF7F3
on focus list of Wikimedia project	wds:Q3281375-5411F97E-2646-4B9B-A188-34E9D579259B
MeSH tree code	wds:Q3281375-5AE3F76C-A8BC-42FB-9CDC-1C4F7E6FEDB9 wds:Q3281375-F28F6471-3A48-4964-A42A-28345AA09B28
ICD-11 ID (MMS)	wds:Q3281375-4d8aa161-4ff6-448f-997e-03e8e678129c
ICD-11 (foundation)	wds:Q3281375-8B6597A9-FF3F-47E0-9B1D-8EF8D947626E
topic's main category	wds:Q3281375-e621c943-4c64-be19-c45b-ec72f2592f9e
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D011686
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.320.565.798 http://id.nlm.nih.gov/mesh/C18.452.648.798
UMLS CUI	C0029595 C0034139 C0281782
MeSH descriptor ID	D011686
on focus list of Wikimedia project	WikiProject Medicine
MeSH tree code	C16.320.565.798 C18.452.648.798
ICD-11 ID (MMS)	5C55.2
ICD-11 (foundation)	1432796178
topic's main category	Category:Inborn errors of purine-pyrimidine metabolism
WikiProjectMed ID	wds:Q3281375-4736C693-ADC1-4A76-A18A-176F8B42A24A
WikiProjectMed ID	Inborn errors of purine–pyrimidine metabolism
is owl:sameAs of	inborn errors of purine–pyrimidine metabolism inborn errors of purine–pyrimidine metabolism
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q3281375

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