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Summary Literature (0)
MIM:212140 - CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP

Xenbase Genes: slc22a5

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008919 - systemic primary carnitine deficiency disease

Disease Ontology (DO):
DOID:14365 - systemic primary carnitine deficiency disease