Preferred Name

Marinesco-Sjogren syndrome

Synonyms

oligophrenic cerebellolenticular degeneration

Marinesco-Garland syndrome

hereditary oligophrenic cerebello-lental degeneration

Marinesco-Sjogren syndrome

Garland-Moorhouse syndrome

MSS

Marinesco-Sjogren-Garland syndrome

Marinesco-Sjögren syndrome

Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism

Marinesco-Sjogren syndrome-myopathy

Definitions

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

ID

http://purl.obolibrary.org/obo/MONDO_0009567

has_broad_synonym

MSS

has_exact_synonym

oligophrenic cerebellolenticular degeneration

Marinesco-Garland syndrome

hereditary oligophrenic cerebello-lental degeneration

Marinesco-Sjogren syndrome

Garland-Moorhouse syndrome

has_related_synonym

Marinesco-Sjogren-Garland syndrome

Marinesco-Sjögren syndrome

Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism

Marinesco-Sjogren syndrome-myopathy

label

Marinesco-Sjogren syndrome

prefixIRI

MONDO:0009567

prefLabel

Marinesco-Sjogren syndrome

textual definition

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020046

http://purl.obolibrary.org/obo/MONDO_0020165

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