Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

Saethre-Chotzen syndrome

Synonyms

Chotzen syndrome

ACS 3

acrocephaly, skull asymmetry, and mild syndactyly

acrocephalo-syndactyly, type 3

SCS

Saethre-Chotzen syndrome; SCS

acrocephalosyndactyly type III

blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)

blepharophimosis, epicanthus inversus, and ptosis 3

Saethre-Chotzen syndrome

blepharophimosis, epicanthus inversus, and ptosis 3, formerly

ACS3

type III Acrocephalosyndactyly

acrocephalosyndactyly, type 3

Saethre-Chotzen syndrome with eyelid anomalies

acrocephalosyndactyly type 3

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://purl.obolibrary.org/obo/MONDO_0007042

closeMatch

http://linkedlifedata.com/resource/umls/id/C1863370

http://linkedlifedata.com/resource/umls/id/C1863371

http://identifiers.org/snomedct/390726000

http://identifiers.org/snomedct/390746005

database_cross_reference

ICD10:Q87.0

DOID:14768

SCTID:83015004

OMIM:101400

Orphanet:794

NCIT:C75034

UMLS:C0175699

EFO:0007029

GARD:0007598

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_794

http://purl.obolibrary.org/obo/DOID_14768

http://linkedlifedata.com/resource/umls/id/C0175699

http://identifiers.org/omim/101400

http://identifiers.org/snomedct/83015004

http://purl.obolibrary.org/obo/NCIT_C75034

has_exact_synonym

SCS

Saethre-Chotzen syndrome

ACS3

type III Acrocephalosyndactyly

acrocephalosyndactyly type 3

has_related_synonym

Chotzen syndrome

ACS 3

acrocephaly, skull asymmetry, and mild syndactyly

acrocephalo-syndactyly, type 3

Saethre-Chotzen syndrome; SCS

acrocephalosyndactyly type III

blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)

blepharophimosis, epicanthus inversus, and ptosis 3

blepharophimosis, epicanthus inversus, and ptosis 3, formerly

acrocephalosyndactyly, type 3

Saethre-Chotzen syndrome with eyelid anomalies

id

MONDO:0007042

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome

http://purl.obolibrary.org/obo/mondo#gard_rare

label

Saethre-Chotzen syndrome

notation

MONDO:0007042

prefLabel

Saethre-Chotzen syndrome

seeAlso

https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome

treeView

http://purl.obolibrary.org/obo/MONDO_0015945

http://purl.obolibrary.org/obo/MONDO_0020169

http://purl.obolibrary.org/obo/MONDO_0019796

http://purl.obolibrary.org/obo/MONDO_0019117

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0020254

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015945

http://purl.obolibrary.org/obo/MONDO_0020169

http://purl.obolibrary.org/obo/MONDO_0019796

http://purl.obolibrary.org/obo/MONDO_0019117

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0020254

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Delete Mapping To Ontology Source
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 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_794 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_794 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_794 ORDO LOOM
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://www.owl-ontologies.com/unnamed.owl#RID14913 DERMLEX LOOM
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