Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PREMATURE OVARIAN FAILURE 1
Synonyms	POFX
ID	http://purl.bioontology.org/ontology/OMIM/311360
altLabel	POFX OVARIAN FAILURE, PREMATURE PREMATURE OVARIAN FAILURE, X-LINKED FRAGILE X PREMATURE OVARIAN FAILURE POF POF1 PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED
cui	C0085215 C3494522
Gene Locus	Xq27.3
Gene Symbol	FRAXA FMR1 POF1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU019319 http://purl.bioontology.org/ontology/OMIM/MTHU057103 http://purl.bioontology.org/ontology/OMIM/MTHU057104
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	176440
notation	311360
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PREMATURE OVARIAN FAILURE 1
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D016649	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D016649	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/E28.3	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0085215	MedlinePlus Health Topics	CUI