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Phosphoglycerate Dehydrogenase Deficiency MeSH Supplementary Concept Data 2022


MeSH Supplementary
Phosphoglycerate Dehydrogenase Deficiency
Unique ID
C566618
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C566618
Entry Term(s)
PHGDH Deficiency
Registry Number
0
Heading Mapped to
*Carbohydrate Metabolism, Inborn Errors
*Microcephaly
*Psychomotor Disorders
*Seizures
Phosphoglycerate Dehydrogenase / *deficiency
Frequency
13
Note
mutation in PHGDH
Date of Entry
2012/11/05
Revision Date
2013/11/06
Phosphoglycerate Dehydrogenase Deficiency Preferred
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