dihydropyrimidine dehydrogenase deficiency

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purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine

Eksteraj rimedoj

WikiProjectMed ID	Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase deficiency
Genetics Home Reference Conditions ID	dihydropyrimidine-dehydrogenase-deficiency
identigilo laŭ MeSH	D054067^[1] nomita kiel: Dihydropyrimidine Dehydrogenase Deficiency speco de bildiga rilato: ekzakta ekvivalento
numero en Monarch Disease Ontology	MONDO_0010130
numero en Homa Fenotipa Ontologio	HP:0003654^[2]
PatientsLikeMe condition ID	dihydropyrimidine-dehydrogenase-deficiency
identigilo laŭ Kiota Enciklopedio de Genoj kaj Genaroj	H00193
UMLS CUI	C2720286^[1] speco de bildiga rilato: proksima kongruaĵo C0274576^[1] speco de bildiga rilato: proksima kongruaĵo C3495551^[3] C1959620^[3]^[2] C4025582^[2]
numero en Orpha.net	1675^[1] speco de bildiga rilato: ekzakta ekvivalento
numero de malofta malsano laŭ GARD	19^[1]^[3]
UniProt disease ID	DI-01488
numero en DiseasesDB	29817
ICD-10-CM	E79.8^[1]
identigilo laŭ Reta Mendela Heredo je Homoj	274270^[3]
numero en Microsoft Academic	2776444387 2910058726
identigilo de Disease Ontology	DOID:14218^[4]
kodo laŭ MeSH	C16.320.565.798.183 C18.452.648.798.183

estas

malofta malsano

malsano

subaro de

inborn errors of purine–pyrimidine metabolism^[4]

osteochondrosis of genetic origin^[1]

pyrimidine metabolic disorder^[1]

medicina fako

medicina genetiko

endokrinologio

rilato al geno

DPYD^[5]^[6]^[7]

en fokuslisto de Vikimedia projekto

VikiProjekto:Medicino

ICD-9-CM

277.2^[1]

numero en Terminaro de Nacia Kancera Instituto de Usono

C84672^[3]

C3964^[3]

plene kongruas kun

http://purl.obolibrary.org/obo/DOID_14218^[4]

http://identifiers.org/doid/DOID:14218^[8]

http://purl.obolibrary.org/obo/HP_0003654^[2]

http://www.orpha.net/ORDO/Orphanet_1675

Referenco

↑ ^1,0 ^1,1 ^1,2 ^1,3 ^1,4 ^1,5 ^1,6 ^1,7 ^1,8 Monarch Disease Ontology release 2018-06-29, 28 jul. 2018, MONDO_0010130
↑ ^2,0 ^2,1 ^2,2 ^2,3 Human Phenotype Ontology release 2018-03-08, 8 okt. 2018, HP:0003654
↑ ^3,0 ^3,1 ^3,2 ^3,3 ^3,4 ^3,5 Disease Ontology, 15 maj. 2019, DOID:14218
↑ ^4,0 ^4,1 ^4,2 Disease Ontology, 29 nov. 2020, DOID:14218
↑ Q12882, 13 aŭg. 2019, UniProt
↑ Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
↑ Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000188641/MONDO_0010130, inferred from an Open Targets association score over 0.7
↑ Identifiers.org, https://registry.identifiers.org/registry/doid

[r1c70495b-1] 1,0 ^1,1 ^1,2 ^1,3 ^1,4 ^1,5 ^1,6 ^1,7 ^1,8 Monarch Disease Ontology release 2018-06-29, 28 jul. 2018, MONDO_0010130

[rfee6184f-2] 2,0 ^2,1 ^2,2 ^2,3 Human Phenotype Ontology release 2018-03-08, 8 okt. 2018, HP:0003654

[r13eecee3-3] 3,0 ^3,1 ^3,2 ^3,3 ^3,4 ^3,5 Disease Ontology, 15 maj. 2019, DOID:14218

[r32034cb7-4] 4,0 ^4,1 ^4,2 Disease Ontology, 29 nov. 2020, DOID:14218

[r17cbe970-5] Q12882, 13 aŭg. 2019, UniProt

[r6f762d22-6] Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.

[r390b696a-7] Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000188641/MONDO_0010130, inferred from an Open Targets association score over 0.7

[raccfa3a2-8] Identifiers.org, https://registry.identifiers.org/registry/doid

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