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cobblestone lissencephaly

Go to external page http://purl.obolibrary.org/obo/MONDO_0018869

Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. [ Orphanet:51577 ]

Synonyms: lissencephaly type 2

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:51577 (MONDO:equivalentTo)
  • UMLS:C0431376 (MONDO:equivalentTo)
  • GARD:3277 (MONDO:GARD)
  • MEDGEN:96562 (MONDO:equivalentTo)
  • SCTID:253149002 (MONDO:equivalentTo)
  • NANDO:1201072 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D054222 (https://orcid.org/0000-0003-1967-3726)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

exactMatch

http://linkedlifedata.com/resource/umls/id/C0431376

http://identifiers.org/snomedct/253149002

http://www.orpha.net/ORDO/Orphanet_51577

http://identifiers.org/mesh/D054222

http://identifiers.org/medgen/96562

id

MONDO:0018869

Term relations