Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE
Synonyms

HPD
ID

http://purl.bioontology.org/ontology/OMIM/609695
altLabel

HPD

4-HYDROXYPHENYLPYRUVIC ACID OXIDASE

TYROSINEMIA, TYPE III

HAWKINSINURIA
cui

C1415696

C0268623

C2931042
Gene Locus

12q24-qter
Gene Symbol

HPD
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/609695.0001

http://purl.bioontology.org/ontology/OMIM/609695.0003

http://purl.bioontology.org/ontology/OMIM/609695.0002

http://purl.bioontology.org/ontology/OMIM/609695.0005

http://purl.bioontology.org/ontology/OMIM/609695.0006

http://purl.bioontology.org/ontology/OMIM/609695.0004
MIMTYPEMEANING

Gene with known sequence
notation

609695
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP188499-0 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10069464 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/414380008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10069461 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LA21172-4 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/415764005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40Rn RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/413356003 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D020176 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/413356003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4400 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D020176 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10069461 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA12530-4 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10069461 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/415764005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10069464 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069464 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/414380008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4400 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C535845 MESH CUI
http://purl.bioontology.org/ontology/RCD/Xa6aO RCD CUI
http://purl.obolibrary.org/obo/PR_000008730 OBA LOOM
http://purl.obolibrary.org/obo/PR_000008730 EFO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177229 NCIT LOOM
http://purl.obolibrary.org/obo/MESH_D015111 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C177229 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_122470 ORDO LOOM
http://purl.obolibrary.org/obo/dinto_0517 DINTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.682.690.416.330 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015111 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020242 PMAPP-PMO LOOM
http://purl.uniprot.org/uniprot/P32754 FTC LOOM
http://purl.bioontology.org/ontology/MESH/D015111 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/75368007 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0015928 OMIT LOOM
http://purl.bioontology.org/ontology/SNMI/F-671E0 SNMI LOOM
http://purl.jp/bio/4/id/200906084655002788 IOBC LOOM
http://purl.obolibrary.org/obo/dinto_0373 DINTO LOOM
http://id.nlm.nih.gov/mesh/D015111 MDM LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16213 HRDO LOOM
http://purl.obolibrary.org/obo/PR_000008730 PR LOOM
http://purl.obolibrary.org/obo/PR_000008730 UPHENO LOOM
http://purl.obolibrary.org/obo/PR_000008730 NIFSTD LOOM