CRANIOFACIAL MICROSOMIA

CFM

http://purl.bioontology.org/ontology/OMIM/164210

CFM

FACIOAURICULOVERTEBRAL SEQUENCE

OAVS

GOLDENHAR SYNDROME

OCULOAURICULOVERTEBRAL SPECTRUM

HEMIFACIAL MICROSOMIA

FAV SEQUENCE

HFM

OCULOAURICULOVERTEBRAL DYSPLASIA

OAV DYSPLASIA

C0265240

11q13.1

SAP145

SF3B2

SF3B145

CFM

http://purl.bioontology.org/ontology/OMIM/MTHU074650

http://purl.bioontology.org/ontology/OMIM/MTHU074655

http://purl.bioontology.org/ontology/OMIM/MTHU074653

http://purl.bioontology.org/ontology/OMIM/MTHU074651

http://purl.bioontology.org/ontology/OMIM/MTHU036370

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU010004

http://purl.bioontology.org/ontology/OMIM/MTHU074648

http://purl.bioontology.org/ontology/OMIM/MTHU074642

http://purl.bioontology.org/ontology/OMIM/MTHU059339

http://purl.bioontology.org/ontology/OMIM/MTHU036924

http://purl.bioontology.org/ontology/OMIM/MTHU074654

http://purl.bioontology.org/ontology/OMIM/MTHU074652

http://purl.bioontology.org/ontology/OMIM/MTHU074658

http://purl.bioontology.org/ontology/OMIM/MTHU074656

http://purl.bioontology.org/ontology/OMIM/MTHU074646

http://purl.bioontology.org/ontology/OMIM/MTHU074644

http://purl.bioontology.org/ontology/OMIM/MTHU016598

http://purl.bioontology.org/ontology/OMIM/MTHU006867

http://purl.bioontology.org/ontology/OMIM/MTHU006871

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

http://purl.bioontology.org/ontology/OMIM/MTHU011403

http://purl.bioontology.org/ontology/OMIM/MTHU012400

http://purl.bioontology.org/ontology/OMIM/MTHU074657

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU074645

http://purl.bioontology.org/ontology/OMIM/MTHU074643

http://purl.bioontology.org/ontology/OMIM/MTHU074649

http://purl.bioontology.org/ontology/OMIM/MTHU015187

http://purl.bioontology.org/ontology/OMIM/MTHU074647

http://purl.bioontology.org/ontology/OMIM/MTHU074659

Phenotype description, molecular basis known.

164210

3

pound

CRANIOFACIAL MICROSOMIA

Lesions are most commonly unilateral [MISCELLANEOUS]

Inter- and intrafamilial phenotypic variability [MISCELLANEOUS]

Caused by mutation in the splicing factor 3B, subunit-2 gene (SF3B2, 605591.0001) [MOLECULAR BASIS]

T047