Marinesco-Sjogren syndrome
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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Summary
Marinesco-Sjogren syndrome is a developmental defect during embryogenesis[1]. It draws 204 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #119 of 308).[2]
Key Facts
- Marinesco-Sjogren syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Marinesco-Sjogren syndrome's instance of is recorded as designated intractable/rare disease[4].
- Marinesco-Sjogren syndrome's instance of is recorded as rare disease[5].
- Marinesco-Sjogren syndrome's instance of is recorded as class of disease[6].
- Marinesco-Sjogren syndrome is a type of autosomal recessive disease[7].
- Marinesco-Sjogren syndrome is a type of eyelid degenerative disease[8].
- Marinesco-Sjogren syndrome is a type of autosomal recessive degenerative and progressive cerebellar ataxia[9].
- Marinesco-Sjogren syndrome is a type of cerebellar ataxia with peripheral neuropathy[10].
- Marinesco-Sjogren syndrome is a type of syndromic epicanthus[11].
- Marinesco-Sjogren syndrome is a type of cerebral disease with cataract[12].
- Marinesco-Sjogren syndrome is a type of syndromic developmental defect of the eye[13].
- Marinesco-Sjogren syndrome is a type of syndrome[14].
- Marinesco-Sjogren syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4786[15].
- Marinesco-Sjogren syndrome's ICD-9-CM is recorded as 742.4[16].
- Marinesco-Sjogren syndrome's health specialty is recorded as neurology[17].
- Marinesco-Sjogren syndrome's health specialty is recorded as medical genetics[18].
- Marinesco-Sjogren syndrome's genetic association is recorded as SIL1[19].
- Marinesco-Sjogren syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080195[20].
- Marinesco-Sjogren syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0080195[21].
- Marinesco-Sjogren syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_559[22].
- Marinesco-Sjogren syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
Why It Matters
Marinesco-Sjogren syndrome draws 204 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #119 of 308).[2] It has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[24] It is known by 23 alternative names across languages and contexts.[25]