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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | fragile X syndrome | |
| Synonyms |
primary ovarian insufficiency, fragile X-associated fra(X) syndrome X-linked mental retardation and macroorchidism intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome marker 10 syndrome fragile 10 intellectual disability syndrome X-linked intellectual disability and macroorchidism fragile 10 premature ovarian failure mental retardation, X-linked, associated with Marxq28 fragile 10 mental retardation syndrome Martin-Bell syndrome fragile X mental retardation syndrome fragile X syndrome FRAXA syndrome FraX syndrome fragile X intellectual disability syndrome marker X syndrome FXS Fragile X syndrome, X-linked dominant |
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| Definitions |
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010383 |
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| altLabel |
primary ovarian insufficiency, fragile X-associated fra(X) syndrome X-linked mental retardation and macroorchidism intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome marker 10 syndrome fragile 10 intellectual disability syndrome X-linked intellectual disability and macroorchidism fragile 10 premature ovarian failure mental retardation, X-linked, associated with Marxq28 fragile 10 mental retardation syndrome Martin-Bell syndrome fragile X mental retardation syndrome fragile X syndrome FRAXA syndrome FraX syndrome fragile X intellectual disability syndrome marker X syndrome FXS Fragile X syndrome, X-linked dominant
|
|
| definition |
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
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| has_exact_synonym |
Martin-Bell syndrome fragile X mental retardation syndrome fragile X syndrome FRAXA syndrome FraX syndrome fragile X intellectual disability syndrome marker X syndrome FXS Fragile X syndrome, X-linked dominant
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| has_related_synonym |
primary ovarian insufficiency, fragile X-associated fra(X) syndrome X-linked mental retardation and macroorchidism intellectual disability, X-linked, associated with Marxq28 fragile 10 syndrome marker 10 syndrome fragile 10 intellectual disability syndrome X-linked intellectual disability and macroorchidism fragile 10 premature ovarian failure mental retardation, X-linked, associated with Marxq28 fragile 10 mental retardation syndrome
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| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/4883 |
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| label |
fragile X syndrome
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| prefixIRI |
MONDO:0010383
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| prefLabel |
fragile X syndrome
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| textual definition |
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
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| subClassOf |
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