JSON

X-linked cerebral-cerebellar-coloboma syndrome syndrome

^ http://purl.obolibrary.org/obo/MONDO_0010464

A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. [ Orphanet:163961 ]

Term info

database cross reference
  • Orphanet:163961 (OMIM:300864)
  • UMLS:C3275487 (OMIM:300864)
  • OMIM:300864 (Orphanet:163961/e)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3275487, http://purl.obolibrary.org/obo/Orphanet_163961, https://omim.org/entry/300864

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

has exact synonym

X-linked intellectual disability, Kroes type, cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive

has related synonym

cerebral-cerebellar-coloboma syndrome, X-linked, X-linked cerebral-cerebellar-coloboma syndrome

id

MONDO:0010464