has material basis in germline mutation in SHPK isolated sedoheptulokinase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/sedoheptulokinase_deficiency GARD:0018652 SHPKD UMLS:C1291373 Orphanet:440713 MEDGEN:713680 isolated SHPK deficiency OMIM:617213 ICD9:277.6 sedoheptulokinase deficiency SCTID:124309005 MONDO:0014969 inborn disorder of pentose phosphate metabolism