Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MARINESCO-SJOGREN SYNDROME
Synonyms

MSS
ID

http://purl.bioontology.org/ontology/OMIM/248800
altLabel

MSS
cui

C0024814
Gene Locus

5q31
Gene Symbol

SIL1

MSS

BAP
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000750

http://purl.bioontology.org/ontology/OMIM/MTHU028194

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU001504

http://purl.bioontology.org/ontology/OMIM/MTHU033373

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000967

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU024739

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU002278

http://purl.bioontology.org/ontology/OMIM/MTHU028193

http://purl.bioontology.org/ontology/OMIM/MTHU028198

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU028195

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000912

http://purl.bioontology.org/ontology/OMIM/MTHU036917

http://purl.bioontology.org/ontology/OMIM/MTHU028196

http://purl.bioontology.org/ontology/OMIM/MTHU036841

http://purl.bioontology.org/ontology/OMIM/MTHU009268

http://purl.bioontology.org/ontology/OMIM/MTHU028191

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU021643

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU028192

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU028197

http://purl.bioontology.org/ontology/OMIM/MTHU000928
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

248810
notation

248800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MARINESCO-SJOGREN SYNDROME
Scope Statement

Caused by mutation in the SIL1 nucleotide exchange factor gene (SIL1, 608005.0001) [MOLECULAR BASIS]

Onset in infancy [MISCELLANEOUS]
tui

T047
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