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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/130720
http://purl.bioontology.org/ontology/OMIM/130720
Preferred Name

LATERAL MENINGOCELE SYNDROME
Synonyms
LMS
LMNS
LEHMAN SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LMS
LMNS
LEHMAN SYNDROME
prefLabel
LATERAL MENINGOCELE SYNDROME
Gene Symbol
CADASIL1
NOTCH3
CASIL
LMNS
IMF2
notation
130720
Scope Statement
De novo mutation [MISCELLANEOUS]
Caused by mutation in the homolog of the Drosophila NOTCH gene 3 (NOTCH3, 600276.0013) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
166720
609581
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU018362
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU036447
http://purl.bioontology.org/ontology/OMIM/MTHU018361
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU009409
http://purl.bioontology.org/ontology/OMIM/MTHU036370
http://purl.bioontology.org/ontology/OMIM/MTHU048456
http://purl.bioontology.org/ontology/OMIM/MTHU018360
http://purl.bioontology.org/ontology/OMIM/MTHU036587
http://purl.bioontology.org/ontology/OMIM/MTHU004733
http://purl.bioontology.org/ontology/OMIM/MTHU030838
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU003865
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU018357
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU018363
http://purl.bioontology.org/ontology/OMIM/MTHU013759
http://purl.bioontology.org/ontology/OMIM/MTHU011101
http://purl.bioontology.org/ontology/OMIM/MTHU000033
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU004146
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU018359
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU013648
http://purl.bioontology.org/ontology/OMIM/MTHU036712
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU001185
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
19p13.2-p13.1
tui
T047
cui
C1851710
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