mucolipidosis type II https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5565 https://www.malacards.org/card/mucolipidosis_ii_alpha_beta Leroy disease Orphanet:576 MESH:C538602 I cell disease mucolipidosis type II NORD:1279 NCIT:C61270 Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. N-acetylglucosamine 1phosphotransferase deficiency MONDO:0009650 MEDGEN:435914 UMLS:C2673377 GARD:0006749 NANDO:2200567 inclusion cell disease ML 2 DOID:0080070 I-cell disease OMIM:252500 ML disorder type 2 mucolipidosis type II alpha/beta NANDO:1200124 I Cell Disease GNPTA SCTID:70199000 N-acetylglucosamine 1-phosphotransferase deficiency GNPTAB-mucolipidosis lysosomal storage disease with skeletal involvement