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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/611134
http://purl.bioontology.org/ontology/OMIM/611134
Preferred Name

MECKEL SYNDROME, TYPE 4
Synonyms
MECKEL-GRUBER SYNDROME, TYPE 4
MKS4
MECKEL-LIKE CEREBRORENODIGITAL SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MECKEL-GRUBER SYNDROME, TYPE 4
MKS4
MECKEL-LIKE CEREBRORENODIGITAL SYNDROME
prefLabel
MECKEL SYNDROME, TYPE 4
Gene Symbol
SLSN6
3H11AG
KIAA0373
CEP290
BBS14
JBTS5
LCA10
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notation
611134
Scope Statement
Lethal in utero or perinatal lethal [MISCELLANEOUS]
Caused by mutation in the 290-kD centrosomal protein gene (CEP290, 610142.0008) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU024953
http://purl.bioontology.org/ontology/OMIM/MTHU044189
http://purl.bioontology.org/ontology/OMIM/MTHU002514
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU003988
http://purl.bioontology.org/ontology/OMIM/MTHU002499
http://purl.bioontology.org/ontology/OMIM/MTHU000619
http://purl.bioontology.org/ontology/OMIM/MTHU050303
http://purl.bioontology.org/ontology/OMIM/MTHU011716
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU031837
http://purl.bioontology.org/ontology/OMIM/MTHU021708
http://purl.bioontology.org/ontology/OMIM/MTHU011727
http://purl.bioontology.org/ontology/OMIM/MTHU049651
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
12q21.3
tui
T047
cui
C1970161
C1970162
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