Disease Directory

Corticosterone methyloxidase type 2 deficiency is a genetic endocrine disorder affecting the adrenal glands and steroid hormone synthesis. It results...

Cortisol-producing adrenal cortex adenoma is a benign tumor of the adrenal gland that produces excess cortisol, often leading to a presentation simila...

Cortisone reductase deficiency is an endocrine disorder characterized by a failure to convert cortisone into the active hormone cortisol, which disrup...

Cortisone reductase deficiency 1 is an endocrine condition characterized by decreased activity of an enzyme essential for cortisol production. The dis...

Cortisone reductase deficiency 2 is an inherited endocrine disorder that disrupts normal steroid hormone regulation. It is caused by inactivating muta...

Cote katsantoni syndrome, also known as ectodermal dysplasia osteosclerosis, is a condition that appears to affect multiple systems, likely involving...

Coxoauricular syndrome is an extremely rare condition that primarily affects bone development and ear formation. It has been described in one family,...

Coxopodopatellar syndrome, also known as small patella syndrome (SPS), is a very rare benign bone dysplasia that primarily affects the lower limb and...

Cranial neuralgia is a condition characterized by episodes of nerve pain that affects the cranial neuron projection bundle. It is primarily a disorder...

Cranial nodular fasciitis is a rare, benign neoplasm that arises from the cranial bones and is characterized by rapid growth and osteolytic features....

Cranio-osteoarthropathy is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digi...

Craniodiaphyseal dysplasia is a sclerotic bone disorder characterized by massive hyperostosis and sclerosis, especially affecting the skull and facial...

Craniodiaphyseal dysplasia, autosomal dominant is a skeletal condition that primarily affects the craniofacial region, leading to marked thickening an...

Craniodigital syndrome-intellectual disability syndrome is an exceptionally rare condition characterized by distinctive craniofacial features, finger...

Cranioectodermal dysplasia is a rare developmental disorder that affects multiple systems, most the skeletal and ectodermal systems. It is characteriz...

Cranioectodermal dysplasia 1 is a multisystem condition characterized by distinctive craniofacial and skeletal anomalies caused by a mutation in the I...

Cranioectodermal dysplasia 2 is a multisystem condition that primarily affects craniofacial and skeletal development. It is caused by mutations in the...

Cranioectodermal dysplasia 3 is a multisystem condition characterized by abnormalities in dental, skeletal, and renal development. It is caused by mut...

Cranioectodermal dysplasia 4 is a multisystem condition that affects skeletal development, connective tissue, and ocular function. It is caused by pat...

Cranioectodermal dysplasia 5 is a multisystem condition that affects the kidneys, skeletal system, eyes, and nervous system. It is caused by pathogeni...