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Mondo Disease Ontology
| Preferred Name | fragile X-associated tremor/ataxia syndrome | |
| Synonyms |
FXTAS fragile X tremor/ataxia syndrome fragile 10 tremor/ataxia syndrome FXTAS syndrome Fragile X tremor/ataxia syndrome, X-linked dominant |
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| Definitions |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010382 |
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| database_cross_reference |
NANDO:1200691 UMLS:C1839780 NANDO:1200690 DOID:0050879 NCIT:C126566 MESH:C564105 Orphanet:93256 OMIM:300623 SCTID:448045004 MEDGEN:333403 GARD:16806
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| definition |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
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| has_exact_synonym |
FXTAS syndrome Fragile X tremor/ataxia syndrome, X-linked dominant
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| has_related_synonym |
FXTAS fragile X tremor/ataxia syndrome fragile 10 tremor/ataxia syndrome
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| IAO_0000233 | ||
| id |
MONDO:0010382
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
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| label |
fragile X-associated tremor/ataxia syndrome
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| notation |
MONDO:0010382
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| prefLabel |
fragile X-associated tremor/ataxia syndrome
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| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_93256 http://linkedlifedata.com/resource/umls/id/C1839780 http://purl.obolibrary.org/obo/NCIT_C126566 http://identifiers.org/mesh/C564105 http://identifiers.org/medgen/333403 |
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