autosomal dominant hypocalcemia 2

An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.

mitochondrial type mitochondrial complex I deficiency

A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome.

nuclear type mitochondrial complex I deficiency

A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome.

mitochondrial type mitochondrial complex I deficiency 1

A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome.

congenital dyserythropoietic anemia type Ib

A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14.

osteogenesis imperfecta

An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.

nuclear type mitochondrial complex I deficiency 30

A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3.

nuclear type mitochondrial complex I deficiency 12

A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24.

nuclear type mitochondrial complex I deficiency 20

A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.

pentosuria

An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.