Disease Directory

Butyrylcholinesterase deficiency is a metabolic disorder that disrupts the body’s ability to break down certain anesthetic drugs, resulting in prolong...

Byssinosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

c11orf73-related autosomal recessive hypomyelinating leukodystrophy is an extremely rare condition. Because few cases have been documented, detailed c...

Cafe au lait spots, multiple is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Calcaneonavicular coalition is a condition characterized by the fusion of carpal and tarsal bones, leading to stiffness and immobility in the hands an...

Calcific tendinitis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Calcified aponeurotic fibroma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Calciphylaxis is a serious condition characterized by the blockage of blood vessels due to calcium buildup in their walls, leading to ischemia and tis...

Calciphylaxis cutis is a serious condition characterized by painful skin ulcerations due to the calcification of small and medium-sized cutaneous arte...

calloso-genital dysplasia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia is an extremely rare condition. Because few cases have been documente...

Calvarial doughnut lesions-bone fragility syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria...

Campomelia, Cumming type is an extremely rare condition characterized by limb defects and various multivisceral anomalies. It is inherited in an autos...

Campomelic dysplasia is a very rare skeletal dysplasia that affects the development of bones, airway structures, and several internal organs. Most cas...

Camptobrachydactyly is an extremely rare brachydactyly syndrome characterized by short, broad hands and feet, alongside congenital flexion contracture...

Camptodactyly of fingers is a rare, genetic condition characterized by a painless, permanent flexion contracture at the proximal interphalangeal joint...

Camptodactyly syndrome, Guadalajara type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Camptodactyly syndrome, Guadalajara type 3 is a rare genetic bone development disorder characterized by hand camptodactyly and associated facial dysmo...

Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia is an extremely rare condition. Because few cases have been documented, detailed...