Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
anencephaly +   
holoprosencephaly +   
lissencephaly +   
A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
microcephaly +   
periventricular nodular heterotopia +   
subcortical band heterotopia  

Synonyms
Exact Synonyms: Agyria ;   Broad Gyri of Cerebrum ;   ILS ;   LIS1 ;   LISSENCEPHALY 1 ;   LISSENCEPHALY SEQUENCE, ISOLATED ;   Large Gyri of Cerebrum ;   Lissencephalia ;   Lissencephalies ;   Macrogyria ;   Macrogyrias ;   Pachygyria ;   Pachygyrias ;   agyrias
Narrow Synonyms: LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA ;   LISSENCEPHALY, DOMINANT ;   LISSENCEPHALY, RECESSIVE ;   LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA ;   SBH ;   SCLH ;   subcortical band heterotopia
Primary IDs: MESH:D054082
Alternate IDs: OMIM:607432
Xrefs: GARD:12291 ;   ICD10CM:Q04.3 ;   ICD10CM:Q04.8 ;   NCI:C103921 ;   OMIM:PS607432 ;   ORDO:102009 ;   ORDO:48471
Definition Sources: http://en.wikipedia.org/wiki/Lissencephaly "DO", http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm "DO", MESH:D054082

paths to the root