{
    "disease_id": "DOID:0080623", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024544", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024544", 
            "name": "HEIMLER syndrome 1; HMLR1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024544", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024544", 
            "name": "HMLR1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024544", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024544", 
            "name": "hearing loss, sensorineural, with enamel hypoplasia and nail defects"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024544", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024544", 
            "name": "peroxisome biogenesis disorder 1C"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080623", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080623", 
            "name": "peroxisomal biogenesis disorder 1C"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080623", 
        "description": "A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080623", 
        "name": "Heimler syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/234580", 
            "id": "234580", 
            "database": "MIM"
        }
    ]
}