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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Id | http://purl.obolibrary.org/obo/OMIM_101600
http://purl.obolibrary.org/obo/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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| 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). |
|---|---|
| label |
Pfeiffer syndrome
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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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| has_obo_namespace |
cell_cycle_ontology
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| subClassOf | |
| type | |
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