Entry Search - 304500 311850 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '304500 311850 (Search in: MIM number)'
Results: 2 entries.

1:
* 311850. PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
Cytogenetic location: Xq22.3, Genomic coordinates (GRCh38): X:107,628,510-107,651,026
Matching terms: 311850
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xq22.3 Arts syndrome 301835 XLR 3
Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 XLR 3
Deafness, X-linked 1 304500 XL 3
Gout, PRPS-related 300661 XLR 3
Phosphoribosylpyrophosphate synthetase superactivity 300661 XLR 3
ICD+
SNOMEDCT: 702441001, 723454008, 763460007

Search: 304500 311850 (Search in: MIM number)
Results: 2 entries.

1:
* 311850. PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1
Cytogenetic location: Xq22.3, Genomic coordinates (GRCh38): X:107,628,510-107,651,026
Matching terms: 311850

2:
# 304500. DEAFNESS, X-LINKED 1; DFNX1
Cytogenetic location: Xq22.3
Matching terms: 304500