has material basis in germline mutation in GALK1 galactokinase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency https://www.malacards.org/card/galactosemia_ii galactokinase deficiency with cataracts GARD:0002422 galactokinase deficiency galactosemia GALK-D MONDO:0009255 NCIT:C114767 OMIM:230200 Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. GALK deficiency MEDGEN:120614 DOID:14695 hereditary galactokinase deficiency NANDO:2200533 Orphanet:79237 SCTID:124302001 galactokinase deficiency UMLS:C0268155 galactosemia type 2 icd11.foundation:1173858031 galactosemia disorder of galactose and fructose metabolism