Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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Preferred Name

Fragile X syndrome
Synonyms

FRAX
Definitions

(FRAX) - Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. - (FXTAS). Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems.
ID

http://identifiers.org/omim/300624
altLabel

FRAX
definition

(FRAX) - Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. - (FXTAS). Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems.
id

OMIM:300624
notation

OMIM:300624
prefLabel

Fragile X syndrome
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/300624 GEXO SAME_URI
http://identifiers.org/omim/300624 RETO SAME_URI
http://purl.obolibrary.org/obo/DOID_14261 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010383 MONDO 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
rgo:06200 GAMUTS 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 CCONT 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 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14261 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14261 DDSS 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://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 GEXO LOOM
http://identifiers.org/omim/300624 RETO LOOM