Pediatric Terminology

Last uploaded: January 25, 2013
Preferred Name

Saethre-Chotzen_Syndrome

ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Saethre-Chotzen_Syndrome

ID

C75034

NCI_Definition

A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.

NCI_PT

Type III Acrocephalosyndactyly

NICHD_Definition

_

prefixIRI

Saethre-Chotzen_Syndrome

prefLabel

Saethre-Chotzen_Syndrome

Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology

SYN

Acrocephalosyndactyly Type III

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Abnormality_of_the_Musculoskeletal_System

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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 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.limics.org/hrdo/rdfns#pat_id_235 HRDO LOOM