Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618187 http://purl.bioontology.org/ontology/OMIM/618187
Preferred Name	OVARIAN DYSGENESIS 8
Synonyms	ODG8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ODG8
prefLabel	OVARIAN DYSGENESIS 8
Gene Symbol	ESR2 ODG8
notation	618187
Scope Statement	Caused by mutation in the estrogen receptor-2 gene (ESR2, 601663.0001) [MOLECULAR BASIS] Based on report of 1 patient (last curated November 2018) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
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/MTHU062826 http://purl.bioontology.org/ontology/OMIM/MTHU050419 http://purl.bioontology.org/ontology/OMIM/MTHU062828 http://purl.bioontology.org/ontology/OMIM/MTHU050418 http://purl.bioontology.org/ontology/OMIM/MTHU062827 http://purl.bioontology.org/ontology/OMIM/MTHU062830 http://purl.bioontology.org/ontology/OMIM/MTHU004812 http://purl.bioontology.org/ontology/OMIM/MTHU014153 http://purl.bioontology.org/ontology/OMIM/MTHU044040 http://purl.bioontology.org/ontology/OMIM/MTHU062829 http://purl.bioontology.org/ontology/OMIM/MTHU058026 http://purl.bioontology.org/ontology/OMIM/MTHU036761 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	14q
tui	T047
cui	C4748626

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