Cell Culture Ontology - fragile X-associated tremor/ataxia syndrome - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	fragile X-associated tremor/ataxia syndrome
Synonyms	fragile X tremor/ataxia syndrome fragile 10 tremor/ataxia syndrome FXTAS Fragile X tremor/ataxia syndrome, X-linked dominant FXTAS syndrome
Definitions	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
ID	http://purl.obolibrary.org/obo/MONDO_0010382
database_cross_reference	OMIM:300623 UMLS:C1839780 NCIT:C126566 DOID:0050879 Orphanet:93256 MEDGEN:333403 NANDO:1200691 NANDO:1200690 SCTID:448045004 MESH:C564105 GARD:16806
definition	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
has_exact_synonym	Fragile X tremor/ataxia syndrome, X-linked dominant FXTAS syndrome
has_related_synonym	fragile X tremor/ataxia syndrome fragile 10 tremor/ataxia syndrome FXTAS
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4883 https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0010382
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	fragile X-associated tremor/ataxia syndrome
notation	MONDO:0010382
preferred label	fragile X-associated tremor/ataxia syndrome
prefLabel	fragile X-associated tremor/ataxia syndrome
skos_exactMatch	http://purl.obolibrary.org/obo/Orphanet_93256 http://linkedlifedata.com/resource/umls/id/C1839780 https://omim.org/entry/300623 http://purl.obolibrary.org/obo/NCIT_C126566 http://identifiers.org/mesh/C564105 http://identifiers.org/medgen/333403 http://purl.obolibrary.org/obo/DOID_0050879 http://identifiers.org/snomedct/448045004
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016612 http://purl.obolibrary.org/obo/MONDO_0002254

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0010382	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010382	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010382	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050879	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0010382	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_93256	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010382	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010382	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580109	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/448045004	SNOMEDCT	LOOM
http://purl.jp/bio/4/id/201306027387487233	IOBC	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12199	HRDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/F1y0.00	RCTV2	LOOM
http://purl.obolibrary.org/obo/DOID_0050879	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050879	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050879	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050879	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050879	FNS-H	LOOM
http://purl.obolibrary.org/obo/Fragile-X-Associated_Tremor/Ataxia_Syndrome	NND_ND	LOOM