FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

fragile X syndrome
Synonyms
Definitions

A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
ID

http://purl.obolibrary.org/obo/DOID_14261
definition

A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

fragile X syndrome
prefixIRI

DOID:14261
prefLabel

fragile X syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0080009

http://purl.obolibrary.org/obo/DOID_225
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14261 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010383 MONDO LOOM
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http://sbmi.uth.tmc.edu/ontology/ochv#C0016667 OCHV LOOM
urn:agi-folder:fragile_x_syndrome BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.525.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X78FB RCD LOOM
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http://purl.bioontology.org/ontology/CSP/1254-8431 CRISP LOOM
rgo:06200 GAMUTS LOOM
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http://purl.bioontology.org/ontology/SNOMEDCT/613003 SNOMEDCT LOOM
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http://www.orpha.net/ORDO/Orphanet_908 ORDO LOOM
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http://purl.obolibrary.org/obo/DOID_14261 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14261 NIFSTD LOOM
http://www.limics.fr/ontologies/ontolurgences#SyndromeDuChromosomeXFragile ONTOLURGENCES LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090601 NIFDYS LOOM
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http://nanbyodata.jp/ontology/NANDO_1200692 NANDO LOOM
http://purl.obolibrary.org/obo/Fragile_X_Syndrome NND_ND LOOM
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