Axial mesodermal dysplasia spectrum is a group of rare genetic disorders that affect the development of the axial skeleton, which includes the spine, ribs, and sternum. These disorders are caused by mutations in genes that are involved in the deve...

Axial spondylometaphyseal dysplasia (SMD) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, a short neck, and a flattened face. Other features include a short trunk, a narrow chest, and a curved sp...

AXIN2-related attenuated familial adenomatous polyposis (AFAP) is a rare inherited disorder that is caused by mutations in the AXIN2 gene. People with this condition have an increased risk of developing multiple polyps in the colon and rectum, whi...

Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central ne...

Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy is a rare neurological disorder characterized by progressive weakness and sensory disturbances in the arms and legs. It is caused by the presence of an abnormal protein called...

Ayme-Gripp syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the GATA1 gene. Symptoms can vary from person to person, but may include delayed development...

Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain...

The azygos continuation of the inferior vena cava is a rare anatomical variant in which the azygos vein connects directly to the inferior vena cava. This connection allows blood to bypass the liver and flow directly from the lower body to the hear...

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome (BILA-UGM) is a rare genetic disorder characterized by a combination of immunodeficiency, limb anomalies, and urogenital malformations. It is caused by a mutation in the gene en...

B-cell prolymphocytic leukemia (B-PLL) is a rare type of leukemia that affects B-cells, a type of white blood cell. It is characterized by an overproduction of mature B-cells in the blood and bone marrow. Symptoms of B-PLL include fatigue, fever, ...

B-lymphoblastic leukemia/lymphoma with hyperdiploidy is a type of cancer that affects the B-cells of the immune system. It is characterized by an abnormal increase in the number of chromosomes in the cells, known as hyperdiploidy. This type of can...

B-lymphoblastic leukemia/lymphoma with hypodiploidy is a rare type of cancer that affects the blood and bone marrow. It is a type of acute lymphoblastic leukemia (ALL) that is characterized by an abnormally low number of chromosomes in the cells. ...

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality is a type of cancer that affects the B-cells of the immune system. It is characterized by the presence of recurrent genetic abnormalities, such as a mutation in the gene that cod...

B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) is a type of cancer that affects the B-cells of the immune system. It is caused by a chromosomal translocation between chromosomes 12 and 21, which results in the fusion of two genes, ET...

B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) is a type of cancer that affects the B-cells of the immune system. It is characterized by a chromosomal translocation between chromosomes 1 and 19, which results in a fusion of the TEL and ...

B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) is a type of cancer that affects the B-cells of the immune system. It is characterized by a chromosomal translocation between chromosomes 5 and 14, which results in the fusion of two gene...

B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) is a type of cancer that affects the blood and bone marrow. It is a type of acute lymphoblastic leukemia (ALL) that is caused by a chromosomal translocation between chromosomes 9 and 22. ...