Online Mendelian Inheritance in Man

Last uploaded: April 29, 2019
Preferred Name

SAETHRE-CHOTZEN SYNDROME

Synonyms

ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY

ID

http://purl.bioontology.org/ontology/OMIM/101400

altLabel

ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY

BPES3, FORMERLY

ACS III

SCS

BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY

CHOTZEN SYNDROME

ACROCEPHALOSYNDACTYLY, TYPE III

ACS3

SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES

cui

C1863370

C1863371

C0175699

Gene Locus

7p21

Gene Symbol

SWCOS

TWIST1

SCS

CRS1

ACS3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU024435

http://purl.bioontology.org/ontology/OMIM/MTHU024432

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU015448

http://purl.bioontology.org/ontology/OMIM/MTHU056866

http://purl.bioontology.org/ontology/OMIM/MTHU056864

http://purl.bioontology.org/ontology/OMIM/MTHU024434

http://purl.bioontology.org/ontology/OMIM/MTHU000506

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

http://purl.bioontology.org/ontology/OMIM/MTHU010006

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

http://purl.bioontology.org/ontology/OMIM/MTHU026706

http://purl.bioontology.org/ontology/OMIM/MTHU008662

http://purl.bioontology.org/ontology/OMIM/MTHU019789

http://purl.bioontology.org/ontology/OMIM/MTHU019787

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU019785

http://purl.bioontology.org/ontology/OMIM/MTHU012746

http://purl.bioontology.org/ontology/OMIM/MTHU000581

http://purl.bioontology.org/ontology/OMIM/MTHU002823

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU019795

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

http://purl.bioontology.org/ontology/OMIM/MTHU019792

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU019790

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

http://purl.bioontology.org/ontology/OMIM/MTHU024433

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU004836

http://purl.bioontology.org/ontology/OMIM/MTHU008313

http://purl.bioontology.org/ontology/OMIM/MTHU005090

http://purl.bioontology.org/ontology/OMIM/MTHU056865

http://purl.bioontology.org/ontology/OMIM/MTHU019786

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

http://purl.bioontology.org/ontology/OMIM/MTHU000088

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

http://purl.bioontology.org/ontology/OMIM/MTHU019788

http://purl.bioontology.org/ontology/OMIM/MTHU019796

http://purl.bioontology.org/ontology/OMIM/MTHU019800

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU019791

http://purl.bioontology.org/ontology/OMIM/MTHU004167

http://purl.bioontology.org/ontology/OMIM/MTHU015760

http://purl.bioontology.org/ontology/OMIM/MTHU019798

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

601649

notation

101400

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SAETHRE-CHOTZEN SYNDROME

tui

T047

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http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT LOOM
http://purl.org/skeletome/bonedysplasia#Saethre-Chotzen_syndrome BDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14768 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://www.orpha.net/ORDO/Orphanet_794 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_794 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_794 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14768 NIFSTD LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 MONDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14913 DERMLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/PF55300 RCTV2 LOOM
http://purl.jp/bio/4/id/200906003534087670 IOBC LOOM
http://purl.jp/bio/4/id/200906003534087670 IOBC LOOM
http://purl.jp/bio/4/id/200906003534087670 IOBC LOOM
http://identifiers.org/omim/101400 RETO LOOM
http://identifiers.org/omim/101400 GEXO LOOM
http://identifiers.org/omim/101400 REXO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Saethre-Chotzen_Syndrome PEDTERM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_235 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/1254-7792 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP CUI
http://purl.bioontology.org/ontology/MESH/C566325 MESH CUI