Online Mendelian Inheritance in Man - SAETHRE-CHOTZEN SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/101400 http://purl.bioontology.org/ontology/OMIM/101400
Preferred Name	SAETHRE-CHOTZEN SYNDROME
Synonyms	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
Type	http://www.w3.org/2002/07/owl#Class

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 See more See less
prefLabel	SAETHRE-CHOTZEN SYNDROME
Gene Symbol	CRS1 TWIST1 ACS3 SWCOS SCS
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]
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
tui	T047
Gene Locus	7p21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	101400
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1863370 C0175699
Moved from	601649
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display