Disease Directory

3-Methylglutaconic aciduria is a group of five inherited disorders. It occurs due to mutations in several genes including AUH, DNAJC19, OPA3, and TAZ,...

3-methylglutaconic aciduria type 1 is a condition due to an inborn error of leucine metabolism. The condition can present with a wide range of clinica...

3-methylglutaconic aciduria type 3 (MGA III) is a metabolic condition. It is characterized by the buildup of organic acids along with specific neurolo...

3-methylglutaconic aciduria type 4 is a rare disorder where there is an increased amount of a substance called 3-methylglutaconic acid in the urine. T...

3-methylglutaconic aciduria type 5 is a rare syndrome that usually begins in early childhood, typically before the age of three. It is most notably de...

3-methylglutaconic aciduria type 8 is a rare genetic condition. Detailed definitions are not yet widely available, and knowledge about this condition...

3-methylglutaconic aciduria type 9 is a rare condition known by several names including MGCA9 and MGA9. Detailed information about what the condition...

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome is a rare condition caused by a mutation in the SERAC1 gene. The te...

3-methylglutaconic aciduria, type VIIA is a rare genetic condition that has been recorded in scientific databases such as OMIM. Although detailed desc...

3-methylglutaconic aciduria, type VIIB is a rare metabolic condition. It is one form among several types of 3-methylglutaconic aciduria, with some cas...

Information about overview is currently limited for this condition.

3M syndrome 1 is a condition characterized by prenatal growth restriction and marked postnatal growth delay, which results in a distinctive facial app...

3M syndrome 2 is a genetic condition characterized primarily by marked short stature and distinctive facial and skeletal abnormalities. It is caused b...

3M syndrome 3 is a developmental disorder characterized primarily by markedly short stature, low body weight, and distinctive facial features, all ste...

3MC syndrome is a rare developmental disorder that brings together conditions once known as Carnevale, Mingarelli, Malpuech, and Michels syndromes. Pe...

3MC syndrome 1 is a rare genetic condition that occurs when there is a mutation in the MASP1 gene. It is part of a group of disorders known as 3MC syn...

3MC syndrome 2 is a rare genetic disorder that is caused by a mutation in the COLEC11 gene. It is part of a group of conditions known as 3MC syndromes...

3MC syndrome 3 is a rare genetic disorder that is part of the group of conditions known as 3MC syndromes. The condition is defined by a mutation in th...

3p- syndrome is a rare chromosomal condition that occurs when a part of the short arm of chromosome 3 is missing. This deletion can lead to a range of...

3p25.3 microdeletion syndrome is a rare chromosomal anomaly marked by a missing segment of genetic material at the 3p25.3 region. This condition is ch...