genetic disease

A disease that has_material_basis_in genetic variations in the human genome.

retinitis pigmentosa-deafness syndrome

An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.

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.

myopathy, lactic acidosis, and sideroblastic anemia 3

A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.

mitochondrial DNA depletion syndrome 11

A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.

Kawasaki disease

A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.

vitiligo

An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.

biliary dyskinesia

A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.