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. |
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subClassOf |