ZFIN Human Disease: Marinesco-Sjogren syndrome

OBO ID: DOID:0080195

Term Name:	Marinesco-Sjogren syndrome		Search Ontology:
Synonyms:	Garland-Moorhouse syndrome hereditary oligophrenic cerebello-lental degeneration Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration
Definition:	A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (2)
References:	GARD:8341 OMIM:248800 ORDO:559
Ontology:	Human Disease ( DOID:0080195 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Marinesco-Sjogren syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SIL1	sil1	Marinesco-Sjogren syndrome	248800

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO1-sil1	standard conditions	Kawahara et al., 2016
AB + MO2-sil1	standard conditions	Kawahara et al., 2016
slc24a5^b1/b1 + MO2-sil1	standard conditions	Phan et al., 2018

PHENOTYPE No data available

CITATIONS (2)