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cobblestone lissencephaly without muscular or ocular involvement

Go to external page http://purl.obolibrary.org/obo/MONDO_0014077

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. [ Orphanet:352682 ]

Synonyms: lissencephaly type 2 without muscular or ocular involvement lissencephaly type 5 cobblestone lissencephaly without muscular or eye involvement cobblestone lissencephaly without muscular or ocular involvement lissencephaly type 2 without muscular or eye involvement

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17526 (MONDO:GARD)
  • Orphanet:352682 (OMIM:615191)
  • MEDGEN:767571 (MONDO:equivalentTo)
  • UMLS:C3554657 (MONDO:equivalentTo)
  • OMIM:615191 (Orphanet:352682/e)
  • DOID:0112230 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

ClinGen label
cobblestone lissencephaly without muscular or ocular involvement

exactMatch

http://linkedlifedata.com/resource/umls/id/C3554657

http://identifiers.org/medgen/767571

https://omim.org/entry/615191

http://www.orpha.net/ORDO/Orphanet_352682

http://purl.obolibrary.org/obo/DOID_0112230

has related synonym

lissencephaly 5

LIS5

id

MONDO:0014077