loading...| 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 |
| 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 |
| 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 |
| 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 |
| 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 |