Human Phenotype Ontology

Last uploaded: August 13, 2024
Preferred Name

Gray matter heterotopia
Synonyms

Gray matter heterotopias

Grey matter heterotopia

Heterotopia

Heterotopias

Grey matter heterotopias

Neuronal heterotopia

Definitions

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Gray matter heterotopia is caused by clumps of gray 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. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used.

ID

http://purl.obolibrary.org/obo/HP_0002282

comment

Gray matter heterotopia is caused by clumps of gray 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. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used.

database_cross_reference

SNOMEDCT_US:416286003

UMLS:C0008519

SNOMEDCT_US:128490007

SNOMEDCT_US:417338002

definition

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.

has_alternative_id

HP:0002281

HP:0007314

has_exact_synonym

Gray matter heterotopias

Grey matter heterotopia

Heterotopia

Heterotopias

Grey matter heterotopias

Neuronal heterotopia

has_obo_namespace

human_phenotype

id

HP:0002282

label

Gray matter heterotopia

notation

HP:0002282

prefLabel

Gray matter heterotopia

treeView

http://purl.obolibrary.org/obo/HP_0002269

subClassOf

http://purl.obolibrary.org/obo/HP_0002269

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