Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/211380
http://purl.bioontology.org/ontology/OMIM/211380
Preferred Name

ELSAHY-WATERS SYNDROME
Synonyms
ESWS
BRACHIOSKELETOGENITAL SYNDROME
HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS
BSG SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ESWS
BRACHIOSKELETOGENITAL SYNDROME
HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS
BSG SYNDROME
prefLabel
ELSAHY-WATERS SYNDROME
Gene Symbol
ESWS
TBHS2
CAD11
CDH11
Scope Statement
Caused by mutation in the cadherin-11 gene (CDH11, 600023.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU061398
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU034497
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU061393
http://purl.bioontology.org/ontology/OMIM/MTHU061399
http://purl.bioontology.org/ontology/OMIM/MTHU038330
http://purl.bioontology.org/ontology/OMIM/MTHU061401
http://purl.bioontology.org/ontology/OMIM/MTHU002568
http://purl.bioontology.org/ontology/OMIM/MTHU061403
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU000253
http://purl.bioontology.org/ontology/OMIM/MTHU004092
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU004639
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU040778
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU001511
http://purl.bioontology.org/ontology/OMIM/MTHU061391
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU021640
http://purl.bioontology.org/ontology/OMIM/MTHU036416
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU004139
http://purl.bioontology.org/ontology/OMIM/MTHU000564
http://purl.bioontology.org/ontology/OMIM/MTHU067512
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU006492
http://purl.bioontology.org/ontology/OMIM/MTHU003464
http://purl.bioontology.org/ontology/OMIM/MTHU061400
http://purl.bioontology.org/ontology/OMIM/MTHU061389
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU067510
http://purl.bioontology.org/ontology/OMIM/MTHU017705
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU037383
http://purl.bioontology.org/ontology/OMIM/MTHU003772
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU049113
http://purl.bioontology.org/ontology/OMIM/MTHU067511
http://purl.bioontology.org/ontology/OMIM/MTHU009481
http://purl.bioontology.org/ontology/OMIM/MTHU011786
http://purl.bioontology.org/ontology/OMIM/MTHU058661
http://purl.bioontology.org/ontology/OMIM/MTHU061390
http://purl.bioontology.org/ontology/OMIM/MTHU067509
http://purl.bioontology.org/ontology/OMIM/MTHU061396
http://purl.bioontology.org/ontology/OMIM/MTHU001173
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tui
T047
Gene Locus
16q21-q22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
211380
Semantic type UMLS property
Has inheritance type
cui
C1863870
C0809936
Moved from
603463
OMIM Entry Type
3
OMIM MimType Value
pound
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