Disease Directory

Congenital arteriovenous fistula is a vascular disorder present at birth that occurs when there is an abnormal connection between an artery and a vein...

Congenital autosomal recessive small-platelet thrombocytopenia, also known as CARST, is a rare condition that presents in the neonatal period with a r...

Congenital axonal neuropathy with encephalopathy is a very rare condition that primarily affects the motor and sensory nerves as well as the central n...

Congenital bilateral absence of vas deferens is a condition that primarily affects male reproductive function, leading to infertility. It is character...

Congenital bilateral aplasia of vas deferens from CFTR mutation is a condition in which the vas deferens, a key component of the male reproductive tra...

Congenital bilateral megacalycosis is a condition present at birth that primarily affects the kidneys, where the calyces appear enlarged on both sides...

Congenital bile acid synthesis defect is a condition affecting liver function by impairing the body’s ability to produce normal bile acids. This impai...

Congenital bile acid synthesis defect 1 is a disorder affecting the liver's ability to properly synthesize bile acids, which are crucial for fat diges...

Congenital bile acid synthesis defect 2 is a disorder of bile acid production that leads to severe, rapidly progressive cholestatic liver disease and...

Congenital bile acid synthesis defect 3 is a severe liver disorder that presents in the neonatal period with cholestatic liver disease, marked by jaun...

Congenital bile acid synthesis defect 4 is a metabolic liver disorder that affects bile acid production and can lead to cholestatic liver disease alon...

Congenital bile acid synthesis defect 5 is a disorder that affects liver function by disrupting the normal production and metabolism of bile acids. It...

Congenital bile acid synthesis defect 6 is a metabolic condition characterized by abnormalities in bile acid synthesis due to mutations in the ACOX2 g...

Congenital bowing of long bones is a condition present at birth that involves an angular deformity and shortening of the long bones, particularly affe...

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome, also known as serpentine-like syndrome, is a rare congenital condition...

Congenital brain dysgenesis due to glutamine synthetase deficiency is a severe multisystem condition primarily affecting the central nervous system an...

Congenital bronchobiliary fistula is a rare congenital respiratory disorder in which there is an abnormal connection between the trachea or bronchus a...

Congenital cataract-ichthyosis syndrome is an extremely rare condition marked by the presence of cataracts at birth along with skin changes consistent...

Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome is an ultra-rare multisystem condition that affects de...

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a very rare multi-system condition that affects the ey...