Diseases

Diseases

Industry: Health care

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Diseases

sinus pericranii

Health care; Diseases

Rare vascular anomaly involving an abnormal communication between the extracranial and intracranial circulations involving the venous dura sinuses. It is often present in childhood and can be ...

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, ...

Hajdu-Cheney syndrome

Health care; Diseases

Rare, autosomal dominant syndrome characterized by acro-osteolysis, generalized osteoporosis, and skull deformations.

leukocyte-adhesion deficiency syndrome

Health care; Diseases

Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (Leukocyte-Adhesion receptors) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized ...

papillon-lefevre disease

Health care; Diseases

Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both ...

synovial chondromatosis

Health care; Diseases

Rare, benign, chronic, progressive metaplasia in which cartilage is formed in the synovial membranes of joints, tendon sheaths, or bursae. Some of the metaplastic foci can become detached producing ...

dermatitis herpetiformis

Health care; Diseases

Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The ...