Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/248800
http://purl.bioontology.org/ontology/OMIM/248800
Preferred Name

MARINESCO-SJOGREN SYNDROME
Synonyms
MSS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MSS
prefLabel
MARINESCO-SJOGREN SYNDROME
Gene Symbol
SIL1
MSS
BAP
notation
248800
Scope Statement
Caused by mutation in the SIL1 nucleotide exchange factor gene (SIL1, 608005.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
248810
type
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
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
5q31
tui
T047
cui
C0024814
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