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loading...| Preferred Name |
HAWKINSINURIA |
| Synonyms |
HWKS |
| ID |
http://purl.bioontology.org/ontology/OMIM/140350 |
| altLabel |
HWKS |
| cui |
C2931042 |
| Gene Locus |
12q24-qter |
| Gene Symbol |
HPD |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU008932 http://purl.bioontology.org/ontology/OMIM/MTHU017979 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU017980 http://purl.bioontology.org/ontology/OMIM/MTHU017984 http://purl.bioontology.org/ontology/OMIM/MTHU017978 http://purl.bioontology.org/ontology/OMIM/MTHU066575 http://purl.bioontology.org/ontology/OMIM/MTHU017981 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
140350 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HAWKINSINURIA |
| Scope Statement |
Allelic to tyrosinemia, type III (276710) [MISCELLANEOUS] Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0005) [MOLECULAR BASIS] |
| tui |
T047 |
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