Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/276710 http://purl.bioontology.org/ontology/OMIM/276710
Preferred Name	TYROSINEMIA, TYPE III
Synonyms	TYRSN3 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TYRSN3 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY
prefLabel	TYROSINEMIA, TYPE III
Gene Symbol	HPD
Scope Statement	Allelic to Hawkinsinuria (140350) [MISCELLANEOUS] Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008935 http://purl.bioontology.org/ontology/OMIM/MTHU008934 http://purl.bioontology.org/ontology/OMIM/MTHU008932 http://purl.bioontology.org/ontology/OMIM/MTHU008931 http://purl.bioontology.org/ontology/OMIM/MTHU008936 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU037988 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	12q24-qter
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	276710
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0268623
Moved from	276500
OMIM Entry Type	3
OMIM MimType Value	pound

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