MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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primary ovarian failure (MONDO:0005387)
..Starting node
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premature ovarian failure 10 ()

       Child Nodes:



 Sister Nodes: 
..expandacquired primary ovarian failure ()
..expandautoimmune primary ovarian failure ()
..expandinherited primary ovarian failure ()
..expandpremature menopause ()
..expandpremature ovarian failure 10 ()
..expandpremature ovarian failure 13 ()
..expandpremature ovarian failure 14 ()
..expandpremature ovarian failure 15 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Could not execute query 3
SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar FROM gb_exome.clinvar_variation_v2_latest as t5 WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:612885%' OR t5.otherIDs like '%OMIM Allelic Variant:612885%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;
Term ID:44776
Name:premature ovarian failure 10
Definition:Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).
Alternative IDs:612885
ParentIDs:
TreeNumbers:
Synonyms:menopause, natural, Age At, quantitative trait locus 3; Pof10; premature ovarian failure 10; Pof10
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 612885;
MSeqDR LSDB:  
Genes: MCM8;