Disease Directory

Cone-rod dystrophy 20 is an inherited retinal disorder characterized by the degeneration of cone and rod photoreceptor cells, leading to impaired visi...

Cone-rod dystrophy 21 is an inherited retinal disorder that primarily affects the cone and rod photoreceptor cells, leading to challenges with vision...

Cone-rod dystrophy 22 is an inherited retinal condition that affects the function of cone and rod photoreceptors, leading to impaired vision. It is ca...

Cone-rod dystrophy 24 is an inherited retinal disorder that primarily affects the photoreceptor cells in the eyes, leading to disturbances in color vi...

Cone-rod dystrophy 3 is an inherited retinal condition that primarily affects the light-sensing cells of the eye. It is caused by mutations in the ABC...

Cone-rod dystrophy 5 is an inherited eye disorder that primarily affects the retina, leading to disturbances in both central and peripheral vision. Th...

Cone-rod dystrophy 6 is an inherited retinal disorder that affects the photoreceptor cells of the retina, leading to both cone (responsible for color...

Cone-rod dystrophy 7 is an inherited condition that primarily affects the retina, leading to challenges with vision over time. Although the precise ge...

Cone-rod dystrophy 8 is an inherited retinal disorder affecting the cone and rod photoreceptors, leading to visual impairment. The condition has a mat...

Cone-rod dystrophy 9 is a form of cone-rod dystrophy primarily affecting the function of the retina and vision, caused by mutations in the ADAM9 gene....

Cone-rod synaptic disorder, congenital nonprogressive is an inherited retinal condition characterized by difficulties with the transmission of signals...

Confetti-like macular atrophy is an ocular condition characterized by patchy areas of retinal degeneration in the central macular region that give a p...

Congenital Epstein-Barr virus infection is an extremely rare condition in which an infant is exposed to the Epstein-Barr virus before birth. Most infa...

Congenital Gerbode defect is a heart condition characterized by an abnormal communication between the left ventricle and the right atrium. This defect...

Congenital Horner syndrome is a rare neurological disorder that affects the oculosympathetic pathway, leading to ocular findings evident at birth. The...

Congenital abducens nerve palsy, also known as benign congenital sixth cranial nerve palsy or congenital CNVI palsy, is a condition affecting the nerv...

Congenital absence of both forearm and hand is a rare developmental defect affecting the upper limbs that is evident at birth. This condition results...

Congenital absence of both forearm and hand, bilateral is a rare developmental defect that involves a transverse absence of the radius, ulna, and all...

Congenital absence of both forearm and hand, unilateral is a developmental defect observed at birth that affects the upper extremity, specifically the...

Congenital absence of both lower leg and foot is a condition characterized by the absence of these structures at birth, resulting in significant diffe...