{
    "disease_id": "DOID:0110876", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012562", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012562", 
            "name": "HPE7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012562", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012562", 
            "name": "PTCH1 holoprosencephaly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012562", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012562", 
            "name": "holoprosencephaly 7; HPE7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012562", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012562", 
            "name": "holoprosencephaly caused by mutation in PTCH1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012562", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012562", 
            "name": "holoprosencephaly type 7"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110876", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110876", 
            "name": "HPE7"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110876", 
        "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110876", 
        "name": "holoprosencephaly 7"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110876#disease-associations", 
            "id": "0110876", 
            "database": "Alliance of Genome Resources"
        }
    ]
}