Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/612885 http://purl.bioontology.org/ontology/OMIM/612885
Preferred Name	PREMATURE OVARIAN FAILURE 10
Synonyms	MENOQ3 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3 POF10
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MENOQ3 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3 POF10
prefLabel	PREMATURE OVARIAN FAILURE 10
Gene Symbol	MCM8 POF10
notation	612885
Scope Statement	Caused by mutation in the minichromosome maintenance complex component-8 gene (MCM8, 608187.0001) [MOLECULAR BASIS] One male patient has been reported (last curated September 2015) [MISCELLANEOUS]
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 http://purl.bioontology.org/ontology/STY/T033
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050416 http://purl.bioontology.org/ontology/OMIM/MTHU050417 http://purl.bioontology.org/ontology/OMIM/MTHU050419 http://purl.bioontology.org/ontology/OMIM/MTHU050418 http://purl.bioontology.org/ontology/OMIM/MTHU050420 http://purl.bioontology.org/ontology/OMIM/MTHU048000 http://purl.bioontology.org/ontology/OMIM/MTHU050415 http://purl.bioontology.org/ontology/OMIM/MTHU037275 http://purl.bioontology.org/ontology/OMIM/MTHU007248 http://purl.bioontology.org/ontology/OMIM/MTHU040500 http://purl.bioontology.org/ontology/OMIM/MTHU002670 http://purl.bioontology.org/ontology/OMIM/MTHU036761 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	20p13-p12.3
tui	T047 T033
cui	C2752067 C4225402

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