JSON

microcephaly-polymicrogyria-corpus callosum agenesis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015745

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. [ Orphanet:171703 ]

Term info

database cross reference
  • Orphanet:171703 (MONDO:equivalentTo)
  • UMLS:CN200295 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_171703, http://linkedlifedata.com/resource/umls/id/CN200295

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0015745