Disease Directory

Cataract 8 multiple types is characterized by congenital nuclear cataracts, which are consistently present in affected individuals. The condition is i...

Cataract 9 multiple types is an ocular condition characterized by lens clouding due to mutations in the CRYAA gene. It encompasses several phenotypic...

Cataract-aberrant oral frenula-growth delay syndrome is characterized by the presence of cataracts, short stature, and various anomalies including abe...

Cataract-ataxia-deafness syndrome is characterized by congenital cataracts, progressive sensorineural deafness, ataxia, and mild intellectual deficits...

Cataract-deafness-hypogonadism syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limit...

Cataract-glaucoma syndrome is an extremely rare condition characterized by the association of total bilateral congenital cataract with secondary glauc...

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is a complex, multi-system disorder that...

Cataract-hypertrichosis-intellectual disability syndrome is a rare genetic condition characterized by congenital cataracts, generalized hypertrichosis...

Cataract-intellectual disability-anal atresia-urinary defects syndrome is an extremely rare condition. Because few cases have been documented, detaile...

Cataract-nephropathy-encephalopathy syndrome is an ultra-rare condition that primarily affects the eyes, kidneys, and brain from birth. Reported only...

Catastrophic antiphospholipid syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limite...

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder that affects the electrical system of the hea...

Catecholaminergic polymorphic ventricular tachycardia 1 is a cardiac rhythm disorder in which the heart develops abnormal, polymorphic ventricular arr...

Catecholaminergic polymorphic ventricular tachycardia 2 is a heart rhythm disorder characterized by abnormal, stress-induced rapid heartbeats. This co...

Catecholaminergic polymorphic ventricular tachycardia 3 is a heart rhythm disorder that primarily affects the heart’s electrical system, leading to da...

Catecholaminergic polymorphic ventricular tachycardia 4 is a heart rhythm disorder characterized by abnormal electrical activity that occurs in respon...

Catecholaminergic polymorphic ventricular tachycardia 5 is a cardiac arrhythmia disorder characterized primarily by abnormal heart rhythms that are of...

cathepsin a-related arteriopathy-strokes-leukoencephalopathy is an extremely rare condition. Because few cases have been documented, detailed clinical...

cauda equina intradural extramedullary astrocytoma is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

Caudal appendage-deafness syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.