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Term ID: | 14656 |
Name: | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
Definition: | Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene. |
Alternative IDs: | 616479 |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | PEOB2; progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2; PEOB |
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Reference: |
MedGen:
MeSH:
OMIM: 616479; MSeqDR : 00534; Genes: | 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 '%:616479%' OR t5.otherIDs like '%OMIM Allelic Variant:616479%' )
ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start; |