Syndromes

human disease

complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction

medical condition

severe epilepsy syndrome with infantile spasms, hypsarrhythmia and mental retardation

illlnesses affecting Gulf War Vets

eating disorder that is characterized by effortless regurgitation of most meals following consumption

CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder and is thought to be caused by mutations of the NOTCH3 gene on chromosome 19. The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease.

mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole

Human disease

Human disease

rare disease in which a human simultaneously has diabetes insipidus, diabetes, optic nerve atrophy and deafness syndrome

human disease

human chromosomal disorder caused by having three copies of chromosome 8

rare disease

Human disease

form of left renal vein compression

a rare childhood neurological syndrome characterized by seizures and progressive loss of speech typically in a child with previous age-appropriate development

type of cutaneous lymphoma

eating disorder

Human disease

skin disease

one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy

rare disease

rare genetic syndrome in which affected children are predisposed to develop Wilms tumour

neurodevelopmental disorder that affects how the brain processes sounds

condition where the ulnar nerve becomes physically trapped or pinched, resulting in pain, numbness, or weakness

syndrome characterized by calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia

rare scalp hair shaft dysplasia

medical condition resulting in brief, stabbing chest pains

chromosomal variation of the aneuploidic type characterized by the presence of an extra X and Y chromosome

medical condition

A VIPoma or vipoma () is a rare endocrine tumor that overproduces vasoactive intestinal peptide (thus VIP + -oma). The incidence is about 1 per 10,000,000 per year. VIPomas usually (about 90%) originate from the non-β islet cells of the pancreas. They are sometimes associated with multiple endocrine neoplasia type 1. Roughly 50–75% of VIPomas are malignant, but even when they are benign, they are problematic because they tend to cause a specific syndrome: the massive amounts of VIP cause a syndrome of profound and chronic watery diarrhea and resultant dehydration, hypokalemia, achlorhydria, ac

pseudomedical diagnosis

mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans

syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients

child-god who is forever young, in mythology and as an archetype

disorder that occurs when excessive mucus is produced by the nasal mucosa

syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities

genetic disorder

intestinal condition in humans resulting from ingesting hair

hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory

autosomal dominant disease that has material basis in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas

congenital disorder of urinary system

medical condition

term

an acute respiratory illness with a measured temperature of 38 °C or greater and cough

chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males

X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

medical condition

foodborne illness

disease

medical condition

disease caused by very high levels of calcium and alkali

syndrome or disorder of mental function whose cause is alleged to be known as organic (physiologic) rather than purely of the mind

no proof

complication of anti-HIV treatment

variety of inflammatory bone disorders that may be associated with skin changes

mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan

syndrome

human disease