PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Gray Matter Heterotopias
Synonyms
Definitions

Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.

ID

http://www.phoc.org.cn/pmo/class/PMO_00010315

Database_Cross_Reference

OMIM:MTHU007913

HPO:HP:0002281

OMIM:MTHU053676

OMIM:MTHU007064

SNOMEDCT_US:253150002

SNOMEDCT_US:448041008

RCD:X77r6

Definition

Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.

label

Gray Matter Heterotopias

MCID

MC00091129

PMOID

PMO:00010315

prefixIRI

pmo:PMO_00010315

prefLabel

Gray Matter Heterotopias

Synonym

Gray matter heterotopias

Grey matter heterotopia

Cortical heterotopia

Neuronal heterotopia (morphologic abnormality)

Neuronal heterotopia (disorder)

Cortical heterotopias

Neuronal heterotopias

Neuronal heterotopia

Tree Number

T3.17.4.5.5.1.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00039065

http://www.phoc.org.cn/pmo/class/PMO_00010314

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