Details of Disease | DrugMAP

General Information of Disease (ID: DIS7FO4V)

Disease Name	Ovarian dysgenesis 8
Synonyms	ODG8; OVARIAN DYSGENESIS 8
Disease Hierarchy	DISBB9HA: 46 XX gonadal dysgenesis DIS7FO4V: Ovarian dysgenesis 8
Disease Identifiers	MONDO ID MONDO_0032590 UMLS CUI C4748626 OMIM ID 618187 MedGen ID 1648455

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ESR2	TTOM3J0	Limited	Autosomal dominant	[1]
ESR2	TTOM3J0	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ESR2	OTXNR2WQ	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor (ESR2).J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748-3756. doi: 10.1210/jc.2018-00769.