JSON

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

^ http://purl.obolibrary.org/obo/MONDO_0014419

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. [ Orphanet:370022 ]

Term info

database cross reference
  • OMIM:615960 (Orphanet:370022/e)
  • Orphanet:370022 (OMIM:615960)
  • UMLS:C4014821 (MONDO:ncbi_mim2gene_medline)
Subsets

ordo_disease

abbreviation
PTBHS [ OMIM:615960 MONDO:Lexical ]

IAO 0000233

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

definition

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_370022, http://linkedlifedata.com/resource/umls/id/C4014821, https://omim.org/entry/615960

excluded subClassOf

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

has exact synonym

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Poretti-Boltshauser syndrome

has related synonym

PTBHS, PORETTI-Boltshauser syndrome

id

MONDO:0014419