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Fanconi Anemia Ontology
Last uploaded:
February 18, 2014
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701
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| Preferred Name | Encephalocraniocutaneous Lipomatosis |
| Definitions |
A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Encephalocraniocutaneous Lipomatosis
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| comment |
A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
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| prefLabel |
Encephalocraniocutaneous Lipomatosis
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| synonym |
ECCL
Fishman Syndrome
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| subClassOf | |
| type |
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