ELSAHY-WATERS SYNDROME

ESWS

http://purl.bioontology.org/ontology/OMIM/211380

ESWS

BSG SYNDROME

HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS

BRACHIOSKELETOGENITAL SYNDROME

C1863870

C0809936

16q21-q22.1

ESWS

CAD11

TBHS2

CDH11

http://purl.bioontology.org/ontology/OMIM/MTHU061396

http://purl.bioontology.org/ontology/OMIM/MTHU009481

http://purl.bioontology.org/ontology/OMIM/MTHU038330

http://purl.bioontology.org/ontology/OMIM/MTHU004092

http://purl.bioontology.org/ontology/OMIM/MTHU061400

http://purl.bioontology.org/ontology/OMIM/MTHU061393

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU007254

http://purl.bioontology.org/ontology/OMIM/MTHU061391

http://purl.bioontology.org/ontology/OMIM/MTHU061398

http://purl.bioontology.org/ontology/OMIM/MTHU015980

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU004139

http://purl.bioontology.org/ontology/OMIM/MTHU001173

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU017705

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU034497

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU037383

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU036416

http://purl.bioontology.org/ontology/OMIM/MTHU011786

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU001511

http://purl.bioontology.org/ontology/OMIM/MTHU021640

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU061389

http://purl.bioontology.org/ontology/OMIM/MTHU067512

http://purl.bioontology.org/ontology/OMIM/MTHU061399

http://purl.bioontology.org/ontology/OMIM/MTHU067510

http://purl.bioontology.org/ontology/OMIM/MTHU001150

http://purl.bioontology.org/ontology/OMIM/MTHU003772

http://purl.bioontology.org/ontology/OMIM/MTHU061401

http://purl.bioontology.org/ontology/OMIM/MTHU058661

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU061403

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU061390

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU049113

http://purl.bioontology.org/ontology/OMIM/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU000574

http://purl.bioontology.org/ontology/OMIM/MTHU002568

http://purl.bioontology.org/ontology/OMIM/MTHU003464

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU067511

http://purl.bioontology.org/ontology/OMIM/MTHU067509

http://purl.bioontology.org/ontology/OMIM/MTHU040778

Phenotype description, molecular basis known.

603463

211380

3

pound

ELSAHY-WATERS SYNDROME

Caused by mutation in the cadherin-11 gene (CDH11, 600023.0001) [MOLECULAR BASIS]

T047