{
    "disease_id": "DOID:0080122",
    "recommended_name": {
        "id": "DOID:0080122",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080122",
        "name": "Alpers-Huttenlocher syndrome",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "mitochondrial DNA depletion syndrome 4a",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "Alper's syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers disease",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers progressive infantile poliodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers' disease or gray-matter degeneration",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "progressive sclerosing poliodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080122",
            "name": "Diffuse Cerebral Sclerosis of Schilder",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4a",
            "description": "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome (see this term) characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure."
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers-Huttenlocher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers Huttenlocher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4A (Alpers type)",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Poliodystrophia cerebri progressiva",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers progressive infantile poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers Huttenlocher disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "infantile poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "progressive sclerosing poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "diffuse cerebral degeneration in infancy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "PNDC",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers progressive sclerosing poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "MTDPS4A",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alper's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers' disease or gray-matter degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome type 4a",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4A (Alpers type); MTDPS4A",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "progressive neuronal degeneration of childhood with liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alper syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "neuronal Degeneration of childhood with liver disease, progressive",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "AHD",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "AHS",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "progressive cerebral poliodystrophy",
            "description": ""
        },
        {
            "id": "MIM:203700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203700",
            "name": "Mitochondrial DNA depletion syndrome 4A",
            "description": "Mitochondrial DNA depletion syndrome 4A"
        }
    ]
}