Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

FRAGILE X SYNDROME
Synonyms

FXS
ID

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

FXS

MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28

MARKER X SYNDROME

FRAGILE X MENTAL RETARDATION SYNDROME

MARTIN-BELL SYNDROME

X-LINKED MENTAL RETARDATION AND MACROORCHIDISM
cui

C0016667
Gene Locus

Xq27.3
Gene Symbol

FRAXA

FMR1

POF1
Has manifestation

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU008139

http://purl.bioontology.org/ontology/OMIM/MTHU028823

http://purl.bioontology.org/ontology/OMIM/MTHU038082

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU008141

http://purl.bioontology.org/ontology/OMIM/MTHU001112

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU007287

http://purl.bioontology.org/ontology/OMIM/MTHU038081

http://purl.bioontology.org/ontology/OMIM/MTHU008138

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU028824
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

229150
notation

300624
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FRAGILE X SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14261 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84717 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/MESH/D005600 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D005600 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q99.2 International Classification of Diseases, Version 10 - Clinical Modification CUI