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Cell Culture Ontology
Last uploaded:
July 23, 2014
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Id | http://purl.obolibrary.org/obo/MONDO_0008803
http://purl.obolibrary.org/obo/MONDO_0008803
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Preferred Name | Antley-Bixler syndrome |
Definitions |
Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
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Synonyms |
multisynostotic osteodysgenesis with long bone fractures
osteodysgenesis, multisynostotic with fractures
osteodysgenesis, multisynostotic, with fractures
Antley Bixler syndrome
trapezoidocephaly synostosis syndrome
trapezoidocephaly-synostosis syndrome
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. |
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preferred label |
Antley-Bixler syndrome
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label |
Antley-Bixler syndrome
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prefLabel |
Antley-Bixler syndrome
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database_cross_reference |
SCTID:62964007
DOID:0050462
MEDGEN:1714404
icd11.foundation:2027710139
Orphanet:83
DOID:0081289
UMLS:C5234850
NANDO:2200975
NANDO:1200669
GARD:5826
NORD:792
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notation |
MONDO:0008803
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in_subset |
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has_related_synonym |
multisynostotic osteodysgenesis with long bone fractures
osteodysgenesis, multisynostotic with fractures
osteodysgenesis, multisynostotic, with fractures
Antley Bixler syndrome
trapezoidocephaly synostosis syndrome
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id |
MONDO:0008803
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skos_exactMatch |
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see also | |
subClassOf | |
type | |
has_exact_synonym |
trapezoidocephaly-synostosis syndrome
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