Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ADENINE PHOSPHORIBOSYLTRANSFERASE
Synonyms

APRT DEFICIENCY, JAPANESE TYPE

APRT

APRT DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/102600
altLabel

APRT DEFICIENCY, JAPANESE TYPE

APRT

APRT DEFICIENCY
cui

C0268120

C0268121

C1366623
Gene Locus

16q24.3
Gene Symbol

APRTD

APRT
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/102600.0005

http://purl.bioontology.org/ontology/OMIM/102600.0008

http://purl.bioontology.org/ontology/OMIM/102600.0006

http://purl.bioontology.org/ontology/OMIM/102600.0001

http://purl.bioontology.org/ontology/OMIM/102600.0007

http://purl.bioontology.org/ontology/OMIM/102600.0002

http://purl.bioontology.org/ontology/OMIM/102600.0009

http://purl.bioontology.org/ontology/OMIM/102600.0003

http://purl.bioontology.org/ontology/OMIM/102600.0004
MIMTYPEMEANING

Gene with known sequence
notation

102600
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ADENINE PHOSPHORIBOSYLTRANSFERASE
tui

T047

T028
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10072609 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/65791008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124274002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-40600 SNMI 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.bioontology.org/ontology/SNMI/D6-40604 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65791008 SNOMEDCT CUI
http://www.orpha.net/ORDO/Orphanet_121400 ORDO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15943 HRDO LOOM
http://purl.obolibrary.org/obo/PR_000004175 EFO LOOM
http://purl.obolibrary.org/obo/PR_000004175 OBA LOOM
http://purl.bioontology.org/ontology/MESH/D000228 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/F-68BA8 SNMI LOOM
http://purl.jp/bio/4/id/200906024381167162 IOBC LOOM
http://purl.obolibrary.org/obo/dinto_2803 DINTO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/83334005 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020752 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/CSP/1334-7467 CRISP LOOM
http://id.nlm.nih.gov/mesh/D000228 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.913.400.725.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP95516-8 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000228 RH-MESH LOOM
http://purl.obolibrary.org/obo/MESH_D000228 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0001661 OMIT LOOM
http://purl.uniprot.org/uniprot/P07741 FTC LOOM
http://purl.obolibrary.org/obo/NCIT_C16260 BERO LOOM
http://purl.obolibrary.org/obo/PR_000004175 PR LOOM
http://purl.obolibrary.org/obo/PR_000004175 NIFSTD LOOM
http://purl.bioontology.org/ontology/LNC/MTHU007103 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LP15322-8 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16260 NCIT LOOM