{
    "disease_id": "DOID:0080352", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "Conradi-Hunermann-Happle syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "Conrad Hunermann Happle syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "CDPXD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "CDPX2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "chondrodysplasia punctata 2 X-linked dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "chondrodysplasia punctata 2, X-linked dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "EBP chondrodysplasia punctata"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "Conradi-Hnermann-Happle syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "Conradi-Hunermann syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "Happle syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "chondrodysplasia punctata 2, X-linked dominant; CDPX2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "X-linked chondrodysplasia punctata type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "Conradi Hunermann syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020603", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020603", 
            "name": "chondrodysplasia punctata caused by mutation in EBP"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080352", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080352", 
            "name": "Conradi-Hunermann Syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080352", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080352", 
            "name": "Happle syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080352", 
        "description": "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080352", 
        "name": "X-linked chondrodysplasia punctata 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080352#disease-associations", 
            "id": "0080352", 
            "database": "Alliance of Genome Resources"
        }
    ]
}