Disease Index

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances

Human disease

human disease

rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)

autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the BCKDK gene on chromosome 16p11

human disease

autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts

syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome

autosomal dominant genetic disorder involving the kidneys, ears, and neck

human disease

Human disease

non-metastasizing neoplasm arising from the breast parenchyma

cancer that originates in the mammary gland

human disease

Human disease

epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses

Human disease

neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles

neuroendocrine neoplasm that involves the bronchus

disorder of respiratory system

congenital malformations resulting from abnormal budding of the foregut, most commonly found in the mediastinum

Human disease of premature infants

Human disease

syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has material basis in variation on the X chromosome