OROFACIODIGITAL SYNDROME I

OFDS I

http://purl.bioontology.org/ontology/OMIM/311200

OFDS I

PAPILLON-LEAGE AND PSAUME SYNDROME

OFD1

ORAL-FACIAL-DIGITAL SYNDROME, TYPE I

C1510460

Xp22.3-p22.2

JBTS10

SGBS2

RP23

OFD1

CXorf5

http://purl.bioontology.org/ontology/OMIM/MTHU033028

http://purl.bioontology.org/ontology/OMIM/MTHU038324

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU033030

http://purl.bioontology.org/ontology/OMIM/MTHU006123

http://purl.bioontology.org/ontology/OMIM/MTHU010425

http://purl.bioontology.org/ontology/OMIM/MTHU007063

http://purl.bioontology.org/ontology/OMIM/MTHU033032

http://purl.bioontology.org/ontology/OMIM/MTHU007067

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

http://purl.bioontology.org/ontology/OMIM/MTHU037221

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

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU068185

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

http://purl.bioontology.org/ontology/OMIM/MTHU068181

http://purl.bioontology.org/ontology/OMIM/MTHU007073

http://purl.bioontology.org/ontology/OMIM/MTHU068187

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

http://purl.bioontology.org/ontology/OMIM/MTHU007071

http://purl.bioontology.org/ontology/OMIM/MTHU007089

http://purl.bioontology.org/ontology/OMIM/MTHU007081

http://purl.bioontology.org/ontology/OMIM/MTHU007087

http://purl.bioontology.org/ontology/OMIM/MTHU007075

http://purl.bioontology.org/ontology/OMIM/MTHU068183

http://purl.bioontology.org/ontology/OMIM/MTHU073598

http://purl.bioontology.org/ontology/OMIM/MTHU010259

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

http://purl.bioontology.org/ontology/OMIM/MTHU033027

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU033019

http://purl.bioontology.org/ontology/OMIM/MTHU007085

http://purl.bioontology.org/ontology/OMIM/MTHU014444

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU033029

http://purl.bioontology.org/ontology/OMIM/MTHU010412

http://purl.bioontology.org/ontology/OMIM/MTHU009087

http://purl.bioontology.org/ontology/OMIM/MTHU033031

http://purl.bioontology.org/ontology/OMIM/MTHU033025

http://purl.bioontology.org/ontology/OMIM/MTHU010414

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU007070

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU007066

http://purl.bioontology.org/ontology/OMIM/MTHU007064

http://purl.bioontology.org/ontology/OMIM/MTHU037500

http://purl.bioontology.org/ontology/OMIM/MTHU030888

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU007068

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

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU068182

http://purl.bioontology.org/ontology/OMIM/MTHU068188

http://purl.bioontology.org/ontology/OMIM/MTHU007078

http://purl.bioontology.org/ontology/OMIM/MTHU007072

http://purl.bioontology.org/ontology/OMIM/MTHU007080

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU068184

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU002499

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

http://purl.bioontology.org/ontology/OMIM/MTHU016093

http://purl.bioontology.org/ontology/OMIM/MTHU007082

http://purl.bioontology.org/ontology/OMIM/MTHU007088

http://purl.bioontology.org/ontology/OMIM/MTHU067377

Phenotype description, molecular basis known.

311200

3

pound

OROFACIODIGITAL SYNDROME I

Caused by mutation in the OFD1 protein gene (OFD1, 300170.0001) [MOLECULAR BASIS]

Lethal in males [MISCELLANEOUS]

T047