| Metadata | |
|---|---|
| ID | DOID:12558 |
| PURL | http://purl.obolibrary.org/obo/DOID_12558 Copy |
| Name | chronic progressive external ophthalmoplegia |
| Definition | A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions. https://en.wikipedia.org/wiki/Chronic_progressive_external_ophthalmoplegia, https://eyewiki.org/Chronic_Progressive_External_Ophthalmoplegia_(CPEO), https://medlineplus.gov/genetics/condition/progressive-external-ophthalmoplegia/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:46252003 |
| SKOS |
exactMatch GARD:4503 exactMatch ICD10CM:H49.4 exactMatch ICD9CM:378.72 exactMatch MESH:D017246 exactMatch MIM:PS157640 exactMatch ORDO:520820 exactMatch UMLS_CUI:C0162674 |
| Subsets |
DO_rare_slim |
| Synonyms |
CPEO [EXACT] PEO [EXACT] progressive external ophthalmoplegia [EXACT] |
| Parent Relationships |