Jump to:
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/MTHU017984 http://purl.bioontology.org/ontology/OMIM/MTHU008934 http://purl.bioontology.org/ontology/OMIM/MTHU008932 http://purl.bioontology.org/ontology/OMIM/MTHU017978 http://purl.bioontology.org/ontology/OMIM/MTHU066575 http://purl.bioontology.org/ontology/OMIM/MTHU017980 http://purl.bioontology.org/ontology/OMIM/MTHU008936 http://purl.bioontology.org/ontology/OMIM/MTHU000081 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
140350 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HAWKINSINURIA |
|
| Scope Statement |
Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0005) [MOLECULAR BASIS] Allelic to tyrosinemia, type III (276710) [MISCELLANEOUS] |
|
| tui |
T047 |
Create mapping