Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
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

SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES

ACS3

SCS

ACROCEPHALOSYNDACTYLY, TYPE III

ACS III

BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY

BPES3, FORMERLY

CHOTZEN SYNDROME
cui

C1863370

C0175699
Gene Locus

7p21
Gene Symbol

CRS1

TWIST1

ACS3

SWCOS

SCS
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
Moved from

601649
notation

101400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SAETHRE-CHOTZEN SYNDROME
Scope Statement

Caused by mutation in the TWIST transcription factor gene (TWIST, 601622.0001) [MOLECULAR BASIS]

Phenotypic overlap with Muenke syndrome (602849) due to a mutation in the FGFR3 gene (P250R, 134934.0014) [MISCELLANEOUS]

Few patients with mild to moderate mental retardation [MISCELLANEOUS]

Incidence of 1 in 25,000 to 1 in 50,000 newborns [MISCELLANEOUS]

Variable expressivity [MISCELLANEOUS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566325 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/83015004 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000168 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1254-7792 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D000168 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0007042 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14768 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14768 FNS-H LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI LOOM
http://purl.bioontology.org/ontology/RCTV2/PF55300 RCTV2 LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14768 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_235 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14913 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175699 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18176 OCHV LOOM
http://purl.org/skeletome/bonedysplasia#Saethre-Chotzen_syndrome BDO LOOM
http://www.orpha.net/ORDO/Orphanet_794 ORDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Saethre-Chotzen_Syndrome PEDTERM LOOM
http://identifiers.org/omim/101400 REXO LOOM
http://identifiers.org/omim/101400 GEXO LOOM
http://identifiers.org/omim/101400 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 DOVES LOOM
http://purl.jp/bio/4/id/200906003534087670 IOBC LOOM
http://purl.obolibrary.org/obo/OMIM_101400 CCO LOOM
http://www.gamuts.net/entity#Saethre_Chotzen_syndrome GAMUTS LOOM