Disease Directory

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome is a multi-system disorder that affects the eyes, liver, and brain...

Congenital cataracts-facial dysmorphism-neuropathy syndrome is a complex developmental disorder that affects the eyes, facial structure, and periphera...

Congenital cerebellar ataxia due to RNU12 mutation is a rare neurological condition that primarily affects motor control and coordination. Affected in...

Congenital chylothorax is a rare neonatal condition characterized by the abnormal accumulation of chyle in the pleural space, leading to respiratory d...

Congenital communicating hydrocephalus, also known as congenital non-obstructive hydrocephalus, is a condition characterized by an abnormal accumulati...

Congenital complete agenesis of pericardium is a congenital heart malformation in which the pericardium, the protective sac surrounding the heart, is...

Congenital contractural arachnodactyly is a connective tissue disorder primarily affecting the musculoskeletal system, manifesting with multiple joint...

Congenital contractures of the limbs and face, hypotonia, and developmental delay is a rare multisystem disorder characterized by significant limb and...

Congenital corneal opacities, cornea guttata, and corectopia is a developmental eye condition present from birth that affects the cornea, which is the...

Congenital coronary artery aneurysm is a rare malformation of the coronary arteries characterized by a dilatation greater than 1.5 times the normal si...

Congenital cystic eye, also referred to as CCE, is a very rare developmental anomaly affecting the eye. This condition is characterized by the abnorma...

Congenital cystic eye multiple ocular and intracranial anomalies is a condition characterized by malformations involving the eye and certain intracran...

Congenital deformities of limbs refer to conditions in which the formation of the arms and/or legs is altered from typical development, often evident...

Congenital diaphragmatic hernia (CDH) is characterized by a defect in the diaphragm that allows abdominal organs to move into the thoracic cavity, whi...

Congenital diarrhea 5 with tufting enteropathy is a severe gastrointestinal condition that presents in early infancy with intractable diarrhea and fea...

Congenital diarrhea 6 is a condition characterized by persistent diarrhea present from birth, resulting from a mutation in the GUCY2C gene. This gene...

Congenital diarrhea 7 with exudative enteropathy is a rare, inherited disorder affecting the intestinal system, characterized by chronic, watery diarr...

Congenital disorder of deglycosylation is a complex metabolic condition in which the normal process of attaching sugar molecules to proteins is disrup...

Congenital disorder of deglycosylation 1 is a rare multisystem condition caused by mutations in the NGLY1 gene. It primarily affects children, with de...

Congenital disorder of deglycosylation 2 is a multisystem condition that primarily affects early neurodevelopment and overall growth. It is associated...