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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Preferred Name | Fragile X syndrome | |
| Synonyms |
Fragile X tremor/ataxia syndrome |
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| Definitions |
(FRAX): Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.(FXTAS). Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_300624 |
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| definition |
(FRAX): Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.(FXTAS). Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems.
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| has_obo_namespace |
cell_cycle_ontology
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| has_related_synonym |
Fragile X tremor/ataxia syndrome
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| id |
OMIM:300624
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| label |
Fragile X syndrome
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| notation |
OMIM:300624
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| prefLabel |
Fragile X syndrome
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| treeView | ||
| subClassOf |
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