JSON

partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018430

A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. [ Orphanet:401959 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1660429 (MONDO:equivalentTo)
  • GARD:21707 (MONDO:GARD)
  • UMLS:C4750913 (MONDO:equivalentTo)
  • Orphanet:401959 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/1660429

http://www.orpha.net/ORDO/Orphanet_401959

http://linkedlifedata.com/resource/umls/id/C4750913

id

MONDO:0018430