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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| 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 |
All Properties
| 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
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|
|---|---|
| prefLabel |
SAETHRE-CHOTZEN SYNDROME
|
| Gene Symbol |
CRS1
TWIST1
ACS3
SWCOS
SCS
|
| notation |
101400
|
| 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]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| Moved from |
601649
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
7p21
|
| tui |
T047
|
| cui |
C1863370
C0175699
|
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