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Preferred Name

Adenine phosphoribosyltransferase deficiency
Synonyms

2,8-Dihydroxyadenine urolithiasis

APRT deficiency
ID

http://purl.bioontology.org/ontology/SNMI/D6-40600
altLabel

2,8-Dihydroxyadenine urolithiasis

APRT deficiency
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-68BA8
cui

C3665382

C0268120
notation

D6-40600
prefLabel

Adenine phosphoribosyltransferase deficiency
SIC

277.2
SMX

(M-27000) (F-68BA8)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-40000
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http://purl.bioontology.org/ontology/OMIM/614723 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10072609 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C538228 MESH CUI
http://purl.bioontology.org/ontology/OMIM/102600 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124274002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/614723 OMIM CUI
http://purl.bioontology.org/ontology/MESH/C538228 MESH CUI
http://purl.bioontology.org/ontology/RCD/X40Ug RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10072609 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10072609 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124274002 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0013869 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0060350 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060350 HHEAR LOOM
http://www.orpha.net/ORDO/Orphanet_976 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_775 HRDO LOOM
rgo:23434 GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_2200587 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0013869 MONDO LOOM
http://purl.obolibrary.org/obo/NCIT_C121564 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_614723 CCO LOOM
http://identifiers.org/omim/614723 REXO LOOM
http://identifiers.org/omim/614723 GEXO LOOM
http://identifiers.org/omim/614723 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/614723 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/C538228 MESH LOOM
http://purl.bioontology.org/ontology/RCD/X40Ug RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072609 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_0060350 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060350 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538228 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121564 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0013869 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0013869 KTAO LOOM
http://purl.obolibrary.org/obo/DOID_0060350 DDSS LOOM