Bernard-Soulier syndrome type A2

A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.

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 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 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 4

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1.

mitochondrial complex V (ATP synthase) deficiency nuclear type 5

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.

mitochondrial complex V (ATP synthase) deficiency nuclear type 7

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.

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.