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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Escobar Syndrome | |
| Synonyms |
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| 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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| ID |
http://purl.obolibrary.org/obo/NCIT_C101039 |
|
| code |
C101039
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| Contributing_Source |
NICHD
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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.
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| in_subset | ||
| label |
Escobar Syndrome
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| Preferred_Name |
Escobar Syndrome
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| prefixIRI |
NCIT:C101039
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|
| prefLabel |
Escobar Syndrome
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| Semantic_Type |
Congenital Abnormality
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| UMLS_CUI |
C0265261
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| subClassOf |
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