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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1…

Mandibulofacial dysostosis with congenital eyelid dermoids.

Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with …

A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granul…

Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.

An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate n…

A bony proliferation and articular degeneration of the first METATARSOPHALANGEAL JOINT that is characterized by pain and a progressive decrease in th…

A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and lim…

Lateral displacement of the great toe (HALLUX), producing deformity of the first METATARSOPHALANGEAL JOINT with callous, bursa, or BUNION formation o…

Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired.

A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the F…

Alterations or deviations from normal shape or size which result in a disfigurement of the hand.

Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease.

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

A bony outgrowth on the lower surface of the CALCANEUS. Though often presenting along with plantar fasciitis (FASCIITIS, PLANTAR), they are not consi…

Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.

Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partia…

Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is somet…

Displacement of the femur bone from its normal position at the HIP JOINT.

Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral h…

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and clea…

Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)

Increase in the mass of bone per unit volume.

Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menop…

A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remissio…

A disease of elderly men characterized by large osteophytes that bridge vertebrae and ossification of ligaments and tendon insertions.

A rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior p…

Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium leve…

The label is process-shaped, but the organ-specific concept may also function as a disorder; manual semantic review is required.