Preferred Name |
fragile X syndrome |
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Synonyms |
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Definitions |
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. |
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ID |
http://purl.obolibrary.org/obo/DOID_14261 |
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definition |
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. |
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imported from | ||
label |
fragile X syndrome |
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prefixIRI |
DOID:14261 |
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prefLabel |
fragile X syndrome |
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subClassOf |
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