Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Menkes disease

Synonyms

MNKD

Definitions

(MNKD) - An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances - focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.

ID

http://identifiers.org/omim/309400

altLabel

MNKD

definition

(MNKD) - An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances - focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.

id

OMIM:309400

notation

OMIM:309400

prefLabel

Menkes disease

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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