Source:http://linkedlifedata.com/resource/umls/id/C0162309
MSH: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).,CSP: childhood genetic disease, transmitted as an X-linked recessive trait, characterized by diffuse abnormality of cerebral white matter and adrenal atrophy; mental deterioration progresses to dementia, aphasia, apraxia, dysarthria, and loss of vision.,NCI: A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to prog