Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	FMR1 GENE
Synonyms	FMRP
ID	http://purl.bioontology.org/ontology/OMIM/309550
altLabel	FMRP FRAGILE X MENTAL RETARDATION PROTEIN FRAXA FMR1 FRAGILE X TREMOR/ATAXIA SYNDROME FRAGILE SITE, FOLIC ACID TYPE, RARE, fraXq27.3 PREMATURE OVARIAN FAILURE 1 FRAGILE X SYNDROME
cui	C1839780 C0016667 C1414806 C1414649 C3494522
Gene Locus	Xq27.3
Gene Symbol	FRAXA FMR1 POF1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/309550.0001 http://purl.bioontology.org/ontology/OMIM/309550.0005 http://purl.bioontology.org/ontology/OMIM/309550.0002 http://purl.bioontology.org/ontology/OMIM/309550.0003 http://purl.bioontology.org/ontology/OMIM/309550.0004
MIMTYPEMEANING	Gene with known sequence
notation	309550
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	FMR1 GENE
tui	T028 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667	MedlinePlus Health Topics	CUI
http://purl.bioontology.org/ontology/MESH/D016649	Medical Subject Headings	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75421	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/LNC/LP33555-1	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/LNC/LP33555-1	Logical Observation Identifier Names and Codes	LOOM
http://purl.bioontology.org/ontology/MESH/C564105	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D005600	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q99.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI