Disease association ontology term - MONDO:0000090 - progressive external ophthalmoplegia with mitochondrial DNA deletions

Term summary

ID: MONDO:0000090
Name: progressive external ophthalmoplegia with mitochondrial DNA deletions
Ontology or CV name: Disease association

Parents

is_a progressive external ophthalmoplegia

Annotation

Disease association

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

PB_REF:0000006

Genes:

dna2 (SPBC16D10.04c)

MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

References:

PB_REF:0000006

Genes:

pog1 (SPCC24B10.22)

MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

References:

PB_REF:0000006

Genes:

anc1 (SPBC530.10c)

MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

References:

PB_REF:0000006

Genes:

suc22 (SPBC25D12.04)

MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

References:

PB_REF:0000006

Genes:

pog1 (SPCC24B10.22)

MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

References:

PB_REF:0000006

Genes:

rnh1 (SPBC336.06c)

MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

References:

PB_REF:0000006

Genes:

top3 (SPBC16G5.12c)

MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

References:

PB_REF:0000006

Genes:

cdc22 (SPAC1F7.05)