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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/101600
http://identifiers.org/omim/101600
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|---|---|
| Preferred Name | Pfeiffer syndrome |
| Definitions |
(PS) - A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known - mild autosomal dominant form (type 1) - cloverleaf skull, elbow ankylosis, early death, sporadic (type 2) - craniosynostosis, early demise, sporadic (type 3).
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| Synonyms |
PS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (PS) - A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known - mild autosomal dominant form (type 1) - cloverleaf skull, elbow ankylosis, early death, sporadic (type 2) - craniosynostosis, early demise, sporadic (type 3). |
|---|---|
| altLabel |
PS
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| prefLabel |
Pfeiffer syndrome
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| notation |
OMIM:101600
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| id |
OMIM:101600
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| subClassOf | |
| type |
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