mucopolysaccharidosis I

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.

PSPH deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.

serine deficiency

An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.

PHGDH deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.

maturity-onset diabetes of the young type 3

A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.

maturity-onset diabetes of the young type 4

A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.

maturity-onset diabetes of the young type 1

A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.

maturity-onset diabetes of the young type 9

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.

maturity-onset diabetes of the young type 10

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.

maturity-onset diabetes of the young type 13

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.