Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
NARP syndrome 1 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933C; MTATP6 ORPHA644 G31.8 #551500/ *516060
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 22 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA1; POLG1 ORPHA254892 H49.4 #157640/ *174763
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA1; POLG1 ORPHA254892 H49.4 #157640/ *174763
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 5 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA2; SLC25A4 ORPHA254892 H49.4 #609283/ *103220
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 21 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA3; C10orf2 ORPHA254892 H49.4 #609286/ *606075
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 22 AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOB1 ORPHA254886 H49.4 #258450/ *174763
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1 AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOB1 ORPHA254886 H49.4 #258450/ *174763
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type) ORPHA35698 G71.3 #603041/ *131222
Mitochondrial DNA depletion syndrome 2 (myopathic type) 6 Mitochondrial DNA depletion syndrome 2 (myopathic type) ORPHA35698 G71.3 #609560/ *188250
Mitochondrial DNA depletion syndrome 2 (myopathic type) 3 Mitochondrial DNA depletion syndrome 2 (myopathic type) ORPHA35698 G71.3 #609560/ *188250

ICD 10 Categories

Disease Areas (ICD10)