Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618014 http://purl.bioontology.org/ontology/OMIM/618014
Preferred Name	PREMATURE OVARIAN FAILURE 14
Synonyms	POF14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	POF14
prefLabel	PREMATURE OVARIAN FAILURE 14
Gene Symbol	GDF9 POF14
notation	618014
Scope Statement	Caused by mutation in the growth/differentiation factor-9 gene (GDF9, 601918.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU061275 http://purl.bioontology.org/ontology/OMIM/MTHU050419 http://purl.bioontology.org/ontology/OMIM/MTHU050418 http://purl.bioontology.org/ontology/OMIM/MTHU078392 http://purl.bioontology.org/ontology/OMIM/MTHU078391 http://purl.bioontology.org/ontology/OMIM/MTHU078393 http://purl.bioontology.org/ontology/OMIM/MTHU045021 http://purl.bioontology.org/ontology/OMIM/MTHU044040 http://purl.bioontology.org/ontology/OMIM/MTHU036761 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	5q31.1
tui	T047
cui	C4693941

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