Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CRANIOFACIAL MICROSOMIA 1
Synonyms

GOLDENHAR SYNDROME
ID

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

GOLDENHAR SYNDROME

OCULOAURICULOVERTEBRAL SPECTRUM

HEMIFACIAL MICROSOMIA

CFM1

OCULOAURICULOVERTEBRAL DYSPLASIA

OAVS

FAV SEQUENCE

FACIOAURICULOVERTEBRAL SEQUENCE

HFM

OAV DYSPLASIA
cui

C0265240
Gene Locus

11q13.1
Gene Symbol

CFM

SF3B2

SF3B145

SAP145
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

164210
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CRANIOFACIAL MICROSOMIA 1
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]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10050349 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10051934 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/367462009 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10050349 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10051934 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0725-7823 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1010685005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/703973009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/1010685005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D006053 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001375 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D006053 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/254026007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10051934 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01301 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X7894 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/367462009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10050349 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/205418005 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/109393007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254026007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/703973009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205418005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/PG0F. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/254025006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109393007 SNOMEDCT CUI
http://purl.obolibrary.org/obo/MONDO_0958175 MONDO LOOM