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Disease	Synonyms	Description	Articles	Phenotypes
N-acetylglutamate synthase deficiency	hyperammonemia due to N-acetylglutamate synthase d.. [+] hyperammonemia due to N-acetylglutamate synthase deficiency; N-acetyl glutamate synthetase deficiency; N-acetylglutamate synthetase deficiency; NAG synthetase deficiency; NAGS deficiency [-]	A urea cycle disorder characterized by accumulatio..[+] A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. [-]
Woodhouse-Sakati syndrome	hypogonadism, alopecia, diabetes mellitus, mental .. [+] hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia [-]	A syndrome characterized by hypogonadism, alopecia..[+] A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. [-]