phosphoribosylpyrophosphate synthetase deficiency
http://purl.obolibrary.org/obo/MONDO_0043176
Term info
database cross reference
- MESH:C535995 (MONDO:equivalentTo)
- UMLS:C1291401 (MONDO:equivalentTo)
- GARD:0004337 (MONDO:equivalentTo)
- MESH:C537897 (MONDO:equivalentTo)
- UMLS:C2931079 (MONDO:equivalentTo)
- HGNC:9462 (MONDO:gene)
- GARD:0001690 (MONDO:equivalentTo)
- SCTID:124343001 (MONDO:equivalentTo)
Subsets
gard_rare
exactMatch
http://identifiers.org/mesh/C535995, http://identifiers.org/snomedct/124343001, http://identifiers.org/mesh/C537897, http://linkedlifedata.com/resource/umls/id/C1291401, http://linkedlifedata.com/resource/umls/id/C2931079
has exact synonym
deafness hyperuricemia neurologic ataxia
has related synonym
PRPP synthetase deficiency
id
MONDO:0043176
seeAlso
https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity