Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Autosomal dominant focal dystonia, DYT25 2 DYSTONIA 25; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL ORPHA329466 G24.1 615073
Pyruvate dehydrogenase complex deficiency 69 Pyruvate Dehydrogenase deficiency ORPHA765 E74.4
Pyruvate dehydrogenase complex deficiency 8 Pyruvate Dehydrogenase deficiency ORPHA765 E74.4
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency 16 Pyruvate dehydrogenase E1-alpha deficiency ORPHA79243 E74.4 #312170
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency 8 Pyruvate dehydrogenase E1-alpha deficiency ORPHA79243 E74.4 #312170

ICD 10 Categories

Disease Areas (ICD10)