Disease #02177

Official abbreviation -
Name superactivity, phosphoribosylpyrophosphate synthetase
OMIM ID 300661
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene PRPS1
Associated tissues -
Disease features -
Remarks -


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00151971 - PubMed: Becker 1995 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151976 - PubMed: Roessler 1991 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151978 - PubMed: Becker 1995 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151979 - PubMed: de Brouwer 2007 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151980 - PubMed: de Brouwer 2007 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151981 - PubMed: Roessler 1991 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151982 - PubMed: Becker 1995 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151983 - PubMed: Garcia-Pavia 2003 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
00151984 - PubMed: Becker 1995 - - - - - - 0 - - superactivity, phosphoribosylpyrophosphate synthetase - PRPS1 PRPS1 1 1 Johan den Dunnen
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