Cell Cycle Ontology

Last uploaded: June 26, 2014

Preferred Name	Adenine phosphoribosyltransferase deficiency
Synonyms
Definitions	(APRTD): An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
ID	http://purl.obolibrary.org/obo/OMIM_614723
definition	(APRTD): An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
has_obo_namespace	cell_cycle_ontology
id	OMIM:614723
label	Adenine phosphoribosyltransferase deficiency
notation	OMIM:614723
prefLabel	Adenine phosphoribosyltransferase deficiency
treeView	http://purl.obolibrary.org/obo/OGMS_0000031
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_976	ORDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C121564	BERO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_775	HRDO	LOOM
rgo:23434	GAMUTS	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/SNMI/D6-40600	SNMI	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	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060350	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060350	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0060350	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060350	FNS-H	LOOM
http://nanbyodata.jp/ontology/NANDO_2200587	NANDO	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	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013869	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013869	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0013869	KTAO	LOOM