About: adenine phosphoribosyltransferase deficiency

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About: adenine phosphoribosyltransferase deficiency Goto Sponge NotDistinct Permalink

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An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. (en)
exact match	wds:Q4682223-18D6DAF7-A697-492F-BD67-4684537A2346 wds:Q4682223-B2EBC647-FD76-4330-AEC7-2C5601D40A18 wds:Q4682223-E8675C6F-1075-496C-B106-9CA718D63B9D
exact match	http://www.orpha.net/ORDO/Orphanet_976 http://purl.obolibrary.org/obo/DOID_0060350 http://identifiers.org/doid/DOID:0060350
health specialty	wds:Q4682223-9020A97D-BE98-424D-A5A5-78D24ABC35AA
ICD-10	wds:q4682223-D049D72A-B0CD-4EA0-9139-CE79DA659C38
Mondo ID	wds:Q4682223-F078924A-87B9-4A8D-874A-BE4CFAB860C9
DiseasesDB	wds:q4682223-17E3336A-ADE2-412F-AF85-687B944ADEB4
Disease Ontology ID	wds:Q4682223-DD18E335-8A4D-430D-A9DD-5F0A41FB2652
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013869
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060350
health specialty	endocrinology
ICD-10	E79
Mondo ID	MONDO_0013869
DiseasesDB	32632
Disease Ontology ID	DOID:0060350
rdfs:label	عوز الأدينين فوسفوريبويل ترانسفيراز (ar) نقص آدنین فسفو ریبوزیل ترانسفراز (fa) Deficiência de adenina fosforribosiltransferase (pt) adenine phosphoribosyltransferase deficiency (en) déficit en adénosine phosphoribosyltransférase (fr)
skos:prefLabel	عوز الأدينين فوسفوريبويل ترانسفيراز (ar) نقص آدنین فسفو ریبوزیل ترانسفراز (fa) Deficiência de adenina fosforribosiltransferase (pt) adenine phosphoribosyltransferase deficiency (en) déficit en adénosine phosphoribosyltransférase (fr)
name	عوز الأدينين فوسفوريبويل ترانسفيراز (ar) نقص آدنین فسفو ریبوزیل ترانسفراز (fa) Deficiência de adenina fosforribosiltransferase (pt) adenine phosphoribosyltransferase deficiency (en) déficit en adénosine phosphoribosyltransférase (fr)
instance of	wds:Q4682223-E69A37E2-B2EA-4F87-A64F-036C854356CB wds:Q4682223-E7D49A2D-1E35-4F4E-80FC-C3E3416EDC8D
instance of	class of disease rare disease
subclass of	wds:Q4682223-85ED1F07-585C-4CCE-9E23-35AF90AE27B8 wds:Q4682223-9D148018-EA1C-48FF-81CC-28E49358C465 wds:Q4682223-C3612E54-5384-4577-A575-30F6A5C7DDFC wds:Q4682223-EF96351B-E452-4D70-BF58-4CB9979A0BA0 wds:Q4682223-d2049d65-4021-2db1-dc14-6075d0a62bbe
subclass of	disease inborn errors of purine–pyrimidine metabolism amino acid metabolic disorder inborn disorder of purine metabolism nephropathy secondary to a storage or other metabolic disease
KEGG ID	wds:Q4682223-350D011C-60C4-4C1B-AF2F-6656309F877B
KEGG ID	http://www.kegg.jp/entry/H00195
KEGG ID	H00195
UniProt disease ID	wds:Q4682223-069632ae-4791-ada4-c82a-c650e162841c
Orphanet ID	wds:Q4682223-39ebed67-4367-11e3-2786-8647d09cb03f
genetic association	wds:Q4682223-632C2CDD-94F1-4CCE-AC2E-ED854B457F74
ICD-10-CM	wds:Q4682223-312B247C-59E9-4EAD-96C0-8E02274E0E3F
PatientsLikeMe condition ID	wds:Q4682223-f99b5323-4dd8-0e2f-b534-2e3bbebdfff9
GARD rare disease ID	wds:Q4682223-65B47B02-3A6E-4359-8F1D-392F4DEFAF1E wds:Q4682223-A1156BED-C510-47B0-B931-424CC2091CA4
OMIM ID	wds:Q4682223-72CF15F4-21AE-4FA6-853D-95AF0919F587
Genetics Home Reference Conditions ID	wds:Q4682223-F2B0A9D1-5B5E-4EB3-B4F8-EA3018483E0B
UniProt disease ID	DI-01188
Orphanet ID	976
genetic association	APRT
ICD-10-CM	E79.8
PatientsLikeMe condition ID	adenine-phosphoribosyltransferase-deficiency
GARD rare disease ID	10666 546
OMIM ID	614723
Genetics Home Reference Conditions ID	adenine-phosphoribosyltransferase-deficiency
ICD-9 ID	wds:q4682223-44B6A6B8-10BA-44DE-A124-930DE1396039
ICD-9 ID	277.2
skos:altLabel	2,8-dihydroxyadenine urolithiasis (en) 2,8-dihydroxyadeninuria disease (en) APRT deficiency (en) APRTD (en) Dihydroxyadeninuria (en) Nephrolithiasis, Dha (en) Urolithiasis, 2,8-Dihydroxyadenine (en) Urolithiasis, Dha (en) ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD (en)
NCI Thesaurus ID	wds:Q4682223-A039965B-F89E-4617-87ED-41A8BFFCE746
UMLS CUI	wds:Q4682223-2C05C6EB-6CBF-4025-A92C-2A7FD5670B5A wds:Q4682223-E16D5CA4-2A3F-43C6-B4D1-999D526C867A
MeSH descriptor ID	wds:Q4682223-596196E7-EE42-4210-AFB4-FEBA720B6CF8 wds:Q4682223-FECCDE66-3E64-4D74-8958-7E75CC193224
on focus list of Wikimedia project	wds:Q4682223-EC4FF845-83B9-4420-8B7F-5EF3A1E0D9F3
Microsoft Academic ID	wds:Q4682223-A55B4C1A-6456-4612-BF34-E0510E38C87D
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538228
Microsoft Academic ID	https://makg.org/entity/2779454394
NCI Thesaurus ID	C121564
UMLS CUI	C0268120 C3665382
MeSH descriptor ID	C538228
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2779454394
is owl:sameAs of	adenine phosphoribosyltransferase deficiency
is about of	https://ar.wikipedia.org/wiki/%D8%B9%D9%88%D8%B2_%D8%A7%D9%84%D8%A3%D8%AF%D9%8A%D9%86%D9%8A%D9%86_%D9%81%D9%88%D8%B3%D9%81%D9%88%D8%B1%D9%8A%D8%A8%D9%88%D9%8A%D9%84_%D8%AA%D8%B1%D8%A7%D9%86%D8%B3%D9%81%D9%8A%D8%B1%D8%A7%D8%B2

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