patent blue V allergy

A drug allergy that has_allergic_trigger patent blue V.

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.

mitochondrial complex V (ATP synthase) deficiency nuclear type 4

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q.

mitochondrial complex V (ATP synthase) deficiency nuclear type 2

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.

mitochondrial complex V (ATP synthase) deficiency nuclear type 3

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.

mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1

A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.

Ehlers-Danlos syndrome classic type 2

An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.

mitochondrial complex V (ATP synthase) deficiency nuclear type 6

A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33.

Ehlers-Danlos syndrome classic type 1

An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.

DNA ligase IV deficiency

A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.