Type	Entity	Source evidence	Confidence	Extractor
gene	GNPTAB	“RESULTS: The MLII diagnosis was confirmed by assaying enzyme activities in fibroblasts, which showed a severe reduction in hydrolyzed substrates compared to controls, and by identifying a pathogenic homozygous GNPTAB gene mutation.”	0.98	hgnc_dict_v1
phenotype	hypertension	“One of the children died at 2 months of age due to severe pulmonary hypertension, and the other two children were still alive at 12 months and 18 months of age, respectively.”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“BACKGROUND AND OBJECTIVES: Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia, Riyadh	“Mucolipidosis II: first report from Saudi Arabia. DESIGN AND SETTINGS: This is a case series study conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2008-2012. PATIENTS AND METHODS: We described three unrelated Saudi children who presented with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities.”	0.95	saudi_context_rules_v1