has material basis in germline mutation in disease has feature POLG Cerebral degeneration syndromic disease mitochondrial DNA depletion syndrome 4a https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/mitochondrial_dna_depletion_syndrome_4a_alpers_type ICD10CM:G31.81 Alpers Disease Alpers Huttenlocher syndrome A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. MTDPS4A SCTID:20415001 infantile poliodystrophy mitochondrial DNA depletion syndrome 4A diffuse cerebral degeneration in infancy AHD Alpers progressive infantile poliodystrophy Orphanet:726 DOID:0080122 Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis AHS MEDGEN:60012 Alpers-Huttenlocher syndrome Poliodystrophia cerebri progressiva Alpers-Huttenlocher OMIM:203700 GARD:0005783 Alper's disease progressive neuronal degeneration of childhood with liver disease NCIT:C35257 NORD:752 PNDC Alper's syndrome mitochondrial DNA depletion syndrome type 4a Alpers syndrome Alpers Huttenlocher disease ICD9:330.8 MONDO:0008758 Alper syndrome MedDRA:10062943 mitochondrial DNA depletion syndrome 4A (Alpers type) progressive cerebral poliodystrophy DOID:1442 UMLS:C0205710 Alpers disease Alpers progressive sclerosing poliodystrophy hereditary peripheral neuropathy inherited neurodegenerative disorder metabolic epilepsy mitochondrial DNA depletion syndrome, hepatocerebral form