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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Preferred Name | Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis | |
| Synonyms |
ABS2 |
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| Definitions |
(ABS2) - A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and|or camptodactyly have also been reported. |
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| ID |
http://identifiers.org/omim/207410 |
|
| altLabel |
ABS2
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|
| definition |
(ABS2) - A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and|or camptodactyly have also been reported.
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| id |
OMIM:207410
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| notation |
OMIM:207410
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| prefLabel |
Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis
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| subClassOf |
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