JSON

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Go to external page 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 ]

Synonyms: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Poretti-Boltshauser syndrome

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

ClinGen label
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

exactMatch

http://www.orpha.net/ORDO/Orphanet_370022

http://identifiers.org/medgen/863258

http://linkedlifedata.com/resource/umls/id/C4014821

https://omim.org/entry/615960

excluded subClassOf

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

has related synonym

PTBHS

PORETTI-Boltshauser syndrome

id

MONDO:0014419

term tracker item

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