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loading...| Preferred Name |
TYROSINEMIA, TYPE III |
|
| Synonyms |
TYRSN3 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/276710 |
|
| altLabel |
TYRSN3 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY |
|
| cui |
C0268623 |
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| Gene Locus |
12q24-qter |
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| Gene Symbol |
HPD |
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| 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 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
276500 |
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| notation |
276710 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
TYROSINEMIA, TYPE III |
|
| Scope Statement |
Allelic to Hawkinsinuria (140350) [MISCELLANEOUS] Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
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