{
    "disease_id": "DOID:0081433",
    "recommended_name": {
        "id": "DOID:0081433",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081433",
        "name": "Peroxisome biogenesis disorder 4B",
        "description": "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR."
    },
    "synonyms": [
        {
            "id": "DOID:0081433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081433",
            "name": "SCABD1",
            "description": ""
        },
        {
            "id": "DOID:0081433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081433",
            "name": "spinocerebellar ataxia with blindness and deafness 1",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "peroxisome biogenesis disorder 4B",
            "description": "Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy."
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "non-classic peroxisome biogenesis disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "PBD4B",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "SCABD",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "SCAR3",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "autosomal recessive cerebellar ataxia-blindness-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "autosomal recessive spinocerebellar ataxia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "peroxisome biogenesis disorder 4B",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "peroxisome biogenesis disorder type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "spinocerebellar ataxia autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "spinocerebellar ataxia, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0013931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013931",
            "name": "autosomal recessive cerebellar ataxia - blindness - deafness",
            "description": ""
        },
        {
            "id": "MIM:614863",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614863",
            "name": "Peroxisome biogenesis disorder 4B",
            "description": "Peroxisome biogenesis disorder 4B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081433"
    ],
    "unlinked_id_list": []
}