has material basis in germline mutation in DCXR pentosuria https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/418/pentosuria https://www.malacards.org/card/pentosuria MONDO:0009846 OMIM:260800 DOID:0111258 GARD:0000418 MESH:C536652 MedDRA:10064170 essential pentosuria MEDGEN:78646 SCTID:190764000 Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. PNTSU ICD9:271.8 pentosuria xylitol dehydrogenase deficiency UMLS:C0268162 Orphanet:2843 inborn disorder of pentose phosphate metabolism