Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/164210
http://purl.bioontology.org/ontology/OMIM/164210
Preferred Name

CRANIOFACIAL MICROSOMIA 1
Synonyms
GOLDENHAR SYNDROME
OCULOAURICULOVERTEBRAL SPECTRUM
HEMIFACIAL MICROSOMIA
CFM1
OCULOAURICULOVERTEBRAL DYSPLASIA
OAVS
FAV SEQUENCE
FACIOAURICULOVERTEBRAL SEQUENCE
HFM
OAV DYSPLASIA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
GOLDENHAR SYNDROME
OCULOAURICULOVERTEBRAL SPECTRUM
HEMIFACIAL MICROSOMIA
CFM1
OCULOAURICULOVERTEBRAL DYSPLASIA
OAVS
FAV SEQUENCE
FACIOAURICULOVERTEBRAL SEQUENCE
HFM
OAV DYSPLASIA
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prefLabel
CRANIOFACIAL MICROSOMIA 1
Gene Symbol
CFM
SF3B2
SF3B145
SAP145
Scope Statement
Lesions are most commonly unilateral [MISCELLANEOUS]
Caused by mutation in the splicing factor 3B, subunit-2 gene (SF3B2, 605591.0001) [MOLECULAR BASIS]
Inter- and intrafamilial phenotypic variability [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU011403
http://purl.bioontology.org/ontology/OMIM/MTHU010004
http://purl.bioontology.org/ontology/OMIM/MTHU012400
http://purl.bioontology.org/ontology/OMIM/MTHU036370
http://purl.bioontology.org/ontology/OMIM/MTHU074642
http://purl.bioontology.org/ontology/OMIM/MTHU074659
http://purl.bioontology.org/ontology/OMIM/MTHU074647
http://purl.bioontology.org/ontology/OMIM/MTHU074643
http://purl.bioontology.org/ontology/OMIM/MTHU015187
http://purl.bioontology.org/ontology/OMIM/MTHU074644
http://purl.bioontology.org/ontology/OMIM/MTHU074645
http://purl.bioontology.org/ontology/OMIM/MTHU016598
http://purl.bioontology.org/ontology/OMIM/MTHU074655
http://purl.bioontology.org/ontology/OMIM/MTHU006867
http://purl.bioontology.org/ontology/OMIM/MTHU036924
http://purl.bioontology.org/ontology/OMIM/MTHU074657
http://purl.bioontology.org/ontology/OMIM/MTHU059339
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU074653
http://purl.bioontology.org/ontology/OMIM/MTHU074651
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU074654
http://purl.bioontology.org/ontology/OMIM/MTHU074648
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/MTHU074650
http://purl.bioontology.org/ontology/OMIM/MTHU074652
http://purl.bioontology.org/ontology/OMIM/MTHU074649
http://purl.bioontology.org/ontology/OMIM/MTHU036356
http://purl.bioontology.org/ontology/OMIM/MTHU006871
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tui
T047
Gene Locus
11q13.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
164210
Semantic type UMLS property
Has inheritance type
cui
C0265240
OMIM Entry Type
3
OMIM MimType Value
pound
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