Metadata | |
---|---|
ID | DOID:0111516 |
Name | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
Definition | A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/23043144 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency [EXACT] adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency [EXACT] autosomal recessive progressive external ophthalmoplegia 4 [EXACT] PEOB4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |