Orphanet Rare Disease Ontology

Last uploaded: December 4, 2019
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Preferred Name

Saethre-Chotzen syndrome
Synonyms

SCS
Definitions

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
ID

http://www.orpha.net/ORDO/Orphanet_794
alternative_term

SCS

Acrocephalosyndactyly type 3

ACS3
definition

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
definition_citation

orphanet
hasDbXref

OMIM:101400

ICD-10:Q87.0

UMLS:C0175699
label

Saethre-Chotzen syndrome
notation

ORPHA:794
part_of

http://www.orpha.net/ORDO/Orphanet_98684

http://www.orpha.net/ORDO/Orphanet_946

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_98578
prefLabel

Saethre-Chotzen syndrome
treeView

http://www.orpha.net/ORDO/Orphanet_98684

http://www.orpha.net/ORDO/Orphanet_946

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_98578
subClassOf

http://www.orpha.net/ORDO/Orphanet_377789
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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://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_794 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_794 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_794 HOOM SAME_URI
http://sbmi.uth.tmc.edu/ontology/ochv#C0175699 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_14768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14768 NIFSTD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18176 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 MONDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14913 DERMLEX LOOM
http://www.gamuts.net/entity#Saethre_Chotzen_syndrome GAMUTS REST
http://www.gamuts.net/entity#Saethre_Chotzen_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PF55300 RCTV2 LOOM
http://purl.jp/bio/4/id/200906003534087670 IOBC LOOM
http://purl.bioontology.org/ontology/OMIM/101400 OMIM 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 LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Saethre-Chotzen_Syndrome PEDTERM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_235 HRDO LOOM