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 |