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Pediatric Terminology
Last uploaded:
January 25, 2013
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| Preferred Name | Escobar_Syndrome | |
| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Escobar_Syndrome |
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| ID |
C101039
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| NCI_Definition |
A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
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| NCI_PT |
Escobar Syndrome
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| NICHD_Definition |
_
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| prefixIRI |
Escobar_Syndrome
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| prefLabel |
Escobar_Syndrome
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| Subset_Association1 |
NICHD Pediatric Terminology
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| Subset_Association2 |
Neonatal Research Network Terminology
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Malformation_Syndrome |
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