BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

fragile X syndrome

Synonyms

MARKER X SYNDROME

Definitions

OMIM mapping confirmed by DO. [SN]. 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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:300624

ICD10CM:Q99.2

MESH:D005600

UMLS_CUI:C0016667

ICD9CM:759.83

SNOMEDCT_US_2020_03_01:390007001

GARD:6464

NCI:C84717

ORDO:908

has exact synonym

MARKER X SYNDROME

MARTIN-BELL SYNDROME

FRAGILE X MENTAL RETARDATION SYNDROME

has_obo_namespace

disease_ontology

id

DOID:14261

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

label

fragile X syndrome

notation

DOID:14261

prefLabel

fragile X syndrome

textual 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.

subClassOf

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

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
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 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010383 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010383 EFO LOOM
http://purl.obolibrary.org/obo/NCIT_C84717 BERO LOOM
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
http://sbmi.uth.tmc.edu/ontology/ochv#5246 OCHV LOOM
http://purl.bioontology.org/ontology/CSP/1254-8431 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84717 NCIT LOOM
http://purl.obolibrary.org/obo/GSSO_006979 GSSO LOOM
http://purl.obolibrary.org/obo/OMIT_0006803 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.830.300 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/613003 SNOMEDCT LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Fragile_X_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Fragile_X_Syndrome APAONTO LOOM
http://purl.bioontology.org/ontology/RCTV2/PJyy400 RCTV2 LOOM
http://nanbyodata.jp/ontology/NANDO_2100224 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14261 NATPRO LOOM
http://purl.jp/bio/4/id/200906083599520847 IOBC LOOM
http://purl.obolibrary.org/obo/MONDO_0010383 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010383 DOVES LOOM
http://www.limics.org/hrdo/rdfns#pat_id_120 HRDO LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.83 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/759.83 NLMVS LOOM
http://www.orpha.net/ORDO/Orphanet_908 ORDO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fragile_X_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fragile_X_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Fragile_X_Syndrome EPISEM LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_308 ASDPTO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040032 PMAPP-PMO LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Fragile_X_syndrome NRO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667 MEDLINEPLUS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fragile_X_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/300624 OMIM LOOM
http://localhost/plosthes.2017-1#4815 PLOSTHES LOOM
http://purl.obolibrary.org/obo/DOID_14261 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14261 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14261 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14261 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14261 FNS-H LOOM
http://www.limics.fr/ontologies/ontolurgences#SyndromeDuChromosomeXFragile ONTOLURGENCES LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090601 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090601 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.830.300 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10017324 MEDDRA LOOM
urn:agi-pathway:uuid-9be5bc9f-9562-43d4-b4dd-2c7139c1c587 BPT LOOM
http://purl.obolibrary.org/obo/OMIM_300624 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.455.500 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200840 NANDO LOOM
http://www.gamuts.net/entity#fragile_X_syndrome GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005600 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00504 SNMI LOOM
http://nanbyodata.jp/ontology/NANDO_1200692 NANDO LOOM
http://purl.obolibrary.org/obo/Fragile_X_Syndrome NND_ND LOOM
http://www.co-ode.org/ontologies/galen#FragileXSyndrome GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.500.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D005600 MESH LOOM
http://identifiers.org/omim/300624 REXO LOOM
http://identifiers.org/omim/300624 GEXO LOOM
http://identifiers.org/omim/300624 RETO LOOM

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: tissue-based format

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
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