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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300661
http://purl.bioontology.org/ontology/OMIM/300661
|
|---|---|
| Preferred Name | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY |
| Synonyms |
GOUT, PRPS-RELATED
PRPS1 SUPERACTIVITY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GOUT, PRPS-RELATED
PRPS1 SUPERACTIVITY
|
|---|---|
| prefLabel | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
|
| Gene Symbol |
DFNX1
PRPS1
CMTX5
DFN2
|
| Scope Statement | Heterozygous females may have gout and/or sensorineural deafness [MISCELLANEOUS]
Two main phenotypes, early-onset with neurologic defects and early-adult onset with gout [MISCELLANEOUS]
Caused by mutation in the phosphoribosylpyrophosphate synthetase I gene (PRPS1, 311850.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq22-q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300661
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1970827
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |