AIRE gene
The AIRE gene, also known as AutoImmune REgulator gene, is responsible for coding a protein that plays a crucial role in the…
Atopic dermatitis
Atopic dermatitis is a common skin condition that affects a large number of people. It is considered to be a genetic disorder,…
CSF Immunoglobulin G IgG Index
The CSF Immunoglobulin G (IgG) Index is a test used to check for the presence of certain antibodies in the cerebrospinal fluid…
SLC26A4 gene
The SLC26A4 gene, also known as the Pendred syndrome gene, is a gene that is needed for proper functioning of the thyroid…
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects the development and function of many parts of the body. It is…
Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy syndrome (MVAS) is a rare genetic condition characterized by abnormal chromosome sorting and the presence of aneuploid cells in…
Oculofaciocardiodental syndrome
The Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that affects multiple body systems. It is also known as Radiculomegaly syndrome, Cardiodental…
AGXT gene
The AGXT gene, also known as alanine-glyoxylate aminotransferase gene, is an essential gene responsible for the synthesis of the alanine-glyoxylate aminotransferase enzyme.…
Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 1 is a rare genetic condition that causes a loss of functioning in certain specialized cells in the skin, blood,…