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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101039
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101039
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|---|---|
| Preferred Name | Escobar Syndrome |
| Definitions |
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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| Synonyms |
Escobar Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Escobar Syndrome
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|---|---|
| Preferred_Name |
Escobar Syndrome
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| Semantic_Type |
Congenital Abnormality
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| prefixIRI |
Thesaurus:C101039
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| 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.
|
| UMLS_CUI |
C0265261
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| code |
C101039
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| subClassOf | |
| type | |
| FULL_SYN |
Escobar Syndrome
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| Contributing_Source |
NICHD
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| Concept_In_Subset |
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