Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fragile X-associated tremor/ataxia syndrome
Synonyms	FXTAS syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_12199
ageOfDeath	Elderly
ageOfOnset	Adulthood
altLabel	FXTAS syndrome
id_Medline	neant
id_MIM	300623
id_OMS	G11.2
id_Orpha	93256
inheritance	X-linked dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_12199
prefLabel	Fragile X-associated tremor/ataxia syndrome
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
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	CCONT	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://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