Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

FRAGILE X SYNDROME
Synonyms

MARKER X SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/300624
altLabel

MARKER X SYNDROME

FXS

X-LINKED MENTAL RETARDATION AND MACROORCHIDISM

MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28

MARTIN-BELL SYNDROME

FRAGILE X MENTAL RETARDATION SYNDROME
cui

C0016667
Gene Locus

Xq27.3
Gene Symbol

FMR1

FRAXA

POF1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007283

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU007281

http://purl.bioontology.org/ontology/OMIM/MTHU007282

http://purl.bioontology.org/ontology/OMIM/MTHU008495

http://purl.bioontology.org/ontology/OMIM/MTHU022782

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU068005

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU073585

http://purl.bioontology.org/ontology/OMIM/MTHU007276

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU007279

http://purl.bioontology.org/ontology/OMIM/MTHU038080

http://purl.bioontology.org/ontology/OMIM/MTHU000710

http://purl.bioontology.org/ontology/OMIM/MTHU007278

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU007280

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

229150
notation

300624
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FRAGILE X SYNDROME
Scope Statement

Caused by mutation in the fragile X messenger ribonucleoprotein gene (FMR1, 309550.0001) [MOLECULAR BASIS]

Repeat is unstable if > 52 repeats [MISCELLANEOUS]

50% of females have learning disability or mild mental retardation [MISCELLANEOUS]

Prevalence approximately 1 in 4,000 males [MISCELLANEOUS]

Symptomatic if > 200 repeats [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Most cases (98%) caused by expanded trinucleotide repeat (CGG)n in the FMR1 gene (309550.0004) [MISCELLANEOUS]

Some boys with premutations (55 to 200 repeats) may show milder features, including autistic features [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10017324 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001290 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X78FB RCD CUI
http://purl.bioontology.org/ontology/CSP/1254-8431 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/Q99.2 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/613003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10017324 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/613003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/759.83 ICD9CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D005600 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDDRA/10017324 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00504 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D005600 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0010383 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010383 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2100224 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_14261 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200840 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200692 NANDO 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://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 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://localhost/plosthes.2017-1#4815 PLOSTHES LOOM
http://purl.obolibrary.org/obo/DOID_14261 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14261 BAO 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://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://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