autosomal dominant thrombophilia due to protein S deficiency

A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

sickle cell disease

A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia).

congenital disorder of glycosylation Ib

A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.

Charcot-Marie-Tooth disease intermediate type

A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.

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.

Moebius syndrome

A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).

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.