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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/609695
http://purl.bioontology.org/ontology/OMIM/609695
|
|---|---|
| Preferred Name | 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE |
| Synonyms |
HPD
4-HYDROXYPHENYLPYRUVIC ACID OXIDASE
TYROSINEMIA, TYPE III
HAWKINSINURIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HPD
4-HYDROXYPHENYLPYRUVIC ACID OXIDASE
TYROSINEMIA, TYPE III
HAWKINSINURIA
|
|---|---|
| prefLabel |
4-HYDROXYPHENYLPYRUVATE DIOXYGENASE
|
| Gene Symbol |
HPD
|
| notation |
609695
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
12q24-qter
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C1415696
C0268623
C2931042
|
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