Preferred Name

Saethre-Chotzen syndrome

Synonyms

ACS 3

ID

http://www.limics.org/hrdo/rdfns#pat_id_235

ageOfDeath

Normal

Normale

Normal

Normal

Normal

Normal

Normal

ageOfOnset

Neonatal/infancy

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Néonatal/petite enfance

Neonatal / infancia

Neonatal/Kleinkindalter

altLabel

ACS 3

Akrozephalosyndaktylie Typ 3

Acrocefalossindactilia tipo 3 (ACPS 3)

ACS 3

ACPS III

ACS 3

Acro-céphalo-syndactylie type 3

Acrocephalosyndactyly type 3

Acrocefalosindattilia, tipo 3

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Saethre-Chotzen+syndrome%5BTW%5D

id_MIM

101400

id_OMS

Q87.0

id_Orpha

794

id_SNOMEDCT

83015004

id_UMLS

C0175699

inheritance

Autosomique dominant

Autosomal-dominant

Autosómico dominate

Autosomal dominant

Autossómica dominante

Autosomal dominant

Autosomica dominante

patType

malformation syndrome

prefixIRI

hrdo:pat_id_235

prefLabel

Síndrome de Saethre-Chotzen

Síndrome de Saethre-Chotzen

Sindrome di Saethre-Chotzen

Saethre-Chotzen syndrome

Syndrome de Saethre-Chotzen

Saethre-Chotzen-Syndrom

prevalence

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8

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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://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 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