AXENFELD-RIEGER SYNDROME, TYPE 3

AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS

http://purl.bioontology.org/ontology/OMIM/602482

AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS

RIEGER SYNDROME, TYPE 3

ANTERIOR CHAMBER CLEAVAGE SYNDROME

RIEG3

C2678503

6p25

FOXC1

IRID1

FKHL7

RIEG3

FREAC3

ASGD3

http://purl.bioontology.org/ontology/OMIM/MTHU025409

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU000619

http://purl.bioontology.org/ontology/OMIM/MTHU025410

http://purl.bioontology.org/ontology/OMIM/MTHU002570

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU021458

http://purl.bioontology.org/ontology/OMIM/MTHU015783

http://purl.bioontology.org/ontology/OMIM/MTHU037209

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU004635

http://purl.bioontology.org/ontology/OMIM/MTHU036375

http://purl.bioontology.org/ontology/OMIM/MTHU025411

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU025020

Phenotype description, molecular basis known.

602482

3

pound

AXENFELD-RIEGER SYNDROME, TYPE 3

Genetic heterogeneity [MISCELLANEOUS]

Caused by mutation in the forkhead box C1 gene (FOXC1, 601090.0001) [MOLECULAR BASIS]

T047