Experimental Factor Ontology

Last uploaded: April 15, 2024
Preferred Name

bilateral polymicrogyria

Synonyms
Definitions

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.

ID

http://purl.obolibrary.org/obo/MONDO_0017091

database_cross_reference

GARD:17269

Orphanet:268940

SCTID:765757003

definition

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_268940

http://identifiers.org/snomedct/765757003

id

MONDO:0017091

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#ordo_morphological_anomaly

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#gard_rare

label

bilateral polymicrogyria

notation

MONDO:0017091

preferred label

bilateral polymicrogyria

prefLabel

bilateral polymicrogyria

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000087

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