{
    "disease_id": "DOID:0080624",
    "recommended_name": {
        "id": "DOID:0080624",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080624",
        "name": "Heimler syndrome 2",
        "description": "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0080624",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080624",
            "name": "peroxisomal biogenesis disorder 4C",
            "description": ""
        },
        {
            "id": "MONDO:0100263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100263",
            "name": "peroxisome biogenesis disorder due to PEX6 defect",
            "description": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene."
        },
        {
            "id": "MONDO:0100263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100263",
            "name": "PEX6 related Zellweger spectrum disorder",
            "description": ""
        },
        {
            "id": "MONDO:0100263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100263",
            "name": "peroxisome biogenesis disorder due to PEX6 defect",
            "description": ""
        },
        {
            "id": "MIM:616617",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616617",
            "name": "Heimler syndrome 2",
            "description": "Heimler syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080624"
    ],
    "unlinked_id_list": []
}