Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Saethre-Chotzen syndrome

Synonyms

Acrocephalosyndactyly type 3

Definitions

A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.

ID

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

alternative_term

Acrocephalosyndactyly type 3

ACS3

SCS

definition

A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Autosomal dominant

hasDbXref

UMLS:C0175699

ICD-10:Q87.0

OMIM:101400

OMIM:180750

ICD-11:LD24.GY

label

Saethre-Chotzen syndrome

notation

ORPHA:794

part_of

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

http://www.orpha.net/ORDO/Orphanet_139393

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

http://www.orpha.net/ORDO/Orphanet_611314

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

prefixIRI

ORDO:Orphanet_794

prefLabel

Saethre-Chotzen syndrome

present_in

Australia AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000

Europe AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_range : 1-9 / 100 000

treeView

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

http://www.orpha.net/ORDO/Orphanet_139393

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

http://www.orpha.net/ORDO/Orphanet_611314

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

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_794 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_14768 DOID 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://purl.bioontology.org/ontology/OMIM/101400 OMIM 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 MONDO 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
http://www.gamuts.net/entity#Saethre_Chotzen_syndrome GAMUTS REST