142 members
Syringomyelia is a chronic disorder of the spinal cord which consists of the formation of a fluid-filled cyst, also known as a syrinx, in the spinal cord. As the cyst enlarges over tim...
238 members
Common variable immunodeficiency (CVID) represents a significant category within primary immunodeficiency diseases (PIDDs), a group of disorders where the immune system's function ...
213 members
Antisynthetase syndrome is a rare, chronic, inflammatory autoimmune disorder that affects the muscles and other parts of the body. An autoimmune disorder is one where the body’s own immune...
56 members
Darier disease, also known as keratosis follicularis, is a rare genetic disorder of the skin. It is characterized by skin lesions that consist of thickened, scaly bumps which can be yellow or br...
296 members
Adrenomyeloneuropathy is a significant adult-onset form of X-linked Adrenoleukodystrophy, characterized by the progressive dysfunction of the spinal cord and often the peripheral nerve...
110 members
Fibromyalgia is a disorder characterized by the core symptoms of chronic widespread pain, tenderness, fatigue, sleep disturbance, and cognitive disturbance. The severity of each differs between ...
428 members
Systemic Capillary Leak Syndrome (SCLS), also known as Clarkson's disease, is an exceedingly rare, life- and limb-threatening disorder characterized by acute and severe recurrent attacks fea...
140 members
Birdshot Chorioretinopathy is a rare progressive condition characterized by vitritis (inflammation) and multiple ovoid spots, which are typically orange in colour and hypopigmented, in the eye. ...
72 members
Morgellons is a condition characterized by a range of symptoms including crawling, biting, and stinging sensations on the skin; finding fibers on or under the skin; and persistent rashes or sore...
209 members
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted (see
56 members
Addison´s disease is a rare endocrine or hormonal disorder characterized by a diminished production of hormones by the adrenal glands. The adrenal gl...
80 members
Dent disease is a rare X-linked recessive, chronic kidney condition found almost exclusively in males (see RareShare Guide on Genetic Inheritance
67 members
Adrenoleukodystrophy (ALD) is identified as a rare, X-linked genetic disorder (see RareShare Guide on Genetic Inheritance) that disrupts the no...
109 members
Muckle-Wells syndrome (MWS) is an hereditary autoinflammatory disease with periodic fevers caused by mutations in the NLRP3 gene. It is considered a cryopyrin-associated syndrome (CAPS)...
58 members
Duplication of genes on chromosome location 22q11.2 causes a genomic disease known as microduplication 22q11.2 syndrome. The normal human genome has 23 chromosomes, 22 autosomes and 1 ...
61 members
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare cancer that affects certain cells of the immune system called dendritic cells. The immune system is the natural defense of the body...
218 members
15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15 (see
73 members
The spinal cord is a part of the nervous system that extends down the vertebral column. The spinal cord is divided into thirty one segments. From each segment, two sets of nerves emerge that are...
255 members
Large granular lymphocyte leukemia (LGLL) is a rare form of leukemia affecting the white blood cells called “lymphocytes”. Leukemia is a term referring to cancer in the blood, causin...
61 members
Each human cell stores its genetic material (DNA) in chromosomes. All normal human cells have 23 pairs of chromosomes with the exception of sperm or egg cells that have 23 single chromosomes. Al...