Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620703
http://purl.bioontology.org/ontology/OMIM/620703
Preferred Name

YUKSEL-VOGEL-BAUER SYNDROME
Synonyms
YUVOB
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
YUVOB
prefLabel
YUKSEL-VOGEL-BAUER SYNDROME
Gene Symbol
YUVOB
DLG5
KIAA0583
PDLG
Scope Statement
Two unrelated infants with homozygous DLG5 mutations have been reported (last curated February 2024) [MISCELLANEOUS]
Onset in utero or at birth [MISCELLANEOUS]
Caused by mutation in the discs large MAGUK scaffold protein 5 gene (DLG5, 604090.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU078115
http://purl.bioontology.org/ontology/OMIM/MTHU005796
http://purl.bioontology.org/ontology/OMIM/MTHU078118
http://purl.bioontology.org/ontology/OMIM/MTHU078116
http://purl.bioontology.org/ontology/OMIM/MTHU000159
http://purl.bioontology.org/ontology/OMIM/MTHU006837
http://purl.bioontology.org/ontology/OMIM/MTHU004559
http://purl.bioontology.org/ontology/OMIM/MTHU037622
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU078117
http://purl.bioontology.org/ontology/OMIM/MTHU001611
http://purl.bioontology.org/ontology/OMIM/MTHU060446
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU002335
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU006126
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU001677
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tui
T047
Gene Locus
10q23
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620703
Semantic type UMLS property
Has inheritance type
cui
C5882751
OMIM Entry Type
3
OMIM MimType Value
pound
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