Disease Browser
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Parent Node: autosomal dominant disease (MONDO:0000426) | Parent Node: multiple mitochondrial DNA deletion syndrome (MONDO:0016797) | Parent Node: progressive external ophthalmoplegia with mitochondrial DNA deletions (MONDO:0000090) | ..Starting node ..autosomal dominant progressive external ophthalmoplegia ()
| Child Nodes:
| ........progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 () L: 00117; | ........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 () L: 00047; | ........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 () L: 00074; | ........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 () L: 00048; | ........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 () L: 00049; |
Sister Nodes: | ..adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency () L: 00535;
| ..autosomal dominant progressive external ophthalmoplegia ()
| ..mitochondrial DNA deletion syndrome with progressive myopathy () L: 00050;
| ..progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 () L: 00118;
| ..progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 () L: 00534;
| ..progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 () L: 00510;
| ..progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 () L: 00578;
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 8003 |
Name: | autosomal dominant progressive external ophthalmoplegia |
Definition: | Autosomal dominant form of progressive external ophthalmoplegia. |
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Synonyms: | adPEO; PEOA1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1; progressive external ophthalmoplegia, autosomal dominant |
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MedGen:
MeSH:
OMIM: MSeqDR : Genes: | Phenotypes | | Disease Causing ClinVar Variants | | MSeqDR Portal | |
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