Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300604 http://purl.bioontology.org/ontology/OMIM/300604
Preferred Name	PREMATURE OVARIAN FAILURE 2B
Synonyms	POF2B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	POF2B
prefLabel	PREMATURE OVARIAN FAILURE 2B
Gene Symbol	POF1B FLJ22792 POF2B
Scope Statement	Caused by mutation in the POF1B gene (POF1B, 300603.0001) [MOLECULAR BASIS] Based on report of 5 sisters (last curated April 2017) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU057039 http://purl.bioontology.org/ontology/OMIM/MTHU045117 http://purl.bioontology.org/ontology/OMIM/MTHU036721 http://purl.bioontology.org/ontology/OMIM/MTHU031802 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU057038 http://purl.bioontology.org/ontology/OMIM/MTHU036761 See more See less
tui	T047
Gene Locus	Xq21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300604
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1845105
OMIM Entry Type	3
OMIM MimType Value	pound

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