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Any disease that impacts 200,000 people or less in the U.S. is classified as a rare disease. The rare disease community is a close-knit group of patients, parents and specialists determined to ...
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan ...
A rare disease is technically defined (in the European Union) as a disease that is found in fewer than 5 people per every 10,000 people. ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Although it has been defined as an extension of pneumoconiosis, there is no scientific evidence for a similar disease related to volcanic silica particle exposures. [8] Subsequently, the word was used in Frank Scully's puzzle book Bedside Manna, after which time, members of the N.P.L. campaigned to include the word in major dictionaries. [9] [10]
The zebra has been used as a symbol for rare diseases since around 1940. Dr. Theodore Woodward, a professor at the University of Maryland's School of Medicine [1] used this term to teach students the basics of diagnosing disease: "When looking at a patient's symptoms, it is better to assume it is a common ailment, not a rare one – a horse rather than a zebra."
Sporotrichosis, also known as rose handler's disease, [2] is a fungal infection that may be localised to skin, lungs, bone and joint, or become systemic. [2] [4] It presents with firm painless nodules that later ulcerate. [3] Following initial exposure to Sporothrix schenckii, the disease typically progresses over a period of a week to several ...
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as ...