MeSH

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

Year introduced: 1965(1963)
Date introduced: January 1, 1999

A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

Year introduced: 1994
Date introduced: February 16, 1993

A rare, slowly progressive encephalitis caused by chronic infection with the MEASLES VIRUS. The condition occurs primarily in children and young adults, approximately 2-8 years after the initial infection. A gradual decline in intellectual abilities and behavioral alterations are followed by progressive MYOCLONUS; MUSCLE SPASTICITY; SEIZURES; DEMENTIA; autonomic dysfunction; and ATAXIA. DEATH usually occurs 1-3 years after disease onset. Pathologic features include perivascular cuffing, eosinophilic cytoplasmic inclusions, neurophagia, and fibrous gliosis. It is caused by the SSPE virus, which is a defective variant of MEASLES VIRUS. (From Adams et al., Principles of Neurology, 6th ed, pp767-8)

Year introduced: 1971
Date introduced: January 1, 1999

An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

Year introduced: 1997
Date introduced: June 10, 1996

Movable or portable facilities in which diagnostic and therapeutic services are provided to the community.

Year introduced: 1970
Date introduced: January 1, 1999

Date introduced: August 25, 2010

Date introduced: August 25, 2010

Date introduced: August 25, 2010

RefSeq NM_138959

Date introduced: August 5, 2004

RefSeq NM_020335

Date introduced: November 28, 2002

mutated in both Ellis-van Creveld syndrome and Weyers acrodental dysostosis; RefSeq NM_153717

Date introduced: April 4, 2000

A British overseas territory, part of the British West Indies, lying about 60 miles east of Puerto Rico. Tortola is the main island, other islands include Virgin Gorda, Jost Van Dyke and Anegada.

Year introduced: 2014
Date introduced: July 8, 2013

An island south of Australia and the smallest state of the Commonwealth. Its capital is Hobart. It was discovered and named Van Diemen's Island in 1642 by Abel Tasman, a Dutch navigator, in honor of the Dutch governor-general of the Dutch East Indian colonies. It was renamed for the discoverer in 1853. In 1803 it was taken over by Great Britain and was used as a penal colony. It was granted government in 1856 and federated as a state in 1901. (From Webster's New Geographical Dictionary, 1988, p1190 and Room, Brewer's Dictionary of Names, p535)

Year introduced: 1988
Date introduced: March 9, 1987

A penicillin derivative commonly used in the form of its sodium or potassium salts in the treatment of a variety of infections. It is effective against most gram-positive bacteria and against gram-negative cocci. It has also been used as an experimental convulsant because of its actions on GAMMA-AMINOBUTYRIC ACID mediated synaptic transmission.

Date introduced: January 1, 1999

Abnormal development of cartilage and bone.

Year introduced: 1985
Date introduced: April 6, 1984

A device, activated electronically or by expired pulmonary air, which simulates laryngeal activity and enables a laryngectomized person to speak. Examples of the pneumatic mechanical device are the Tokyo and Van Hunen artificial larynges. Electronic devices include the Western Electric electrolarynx, Tait oral vibrator, Cooper-Rand electrolarynx and the Ticchioni pipe.

Year introduced: 1980
Date introduced: December 21, 1978

Pathological processes involving the chondral tissue (CARTILAGE).

Year introduced: 1968
Date introduced: January 1, 1999

Date introduced: November 5, 2012

Date introduced: August 25, 2010

Date introduced: August 25, 2010