{
    "disease_id": "DOID:0110876",
    "recommended_name": {
        "id": "DOID:0110876",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110876",
        "name": "holoprosencephaly 7",
        "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110876",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110876",
            "name": "HPE7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly 7",
            "description": "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene."
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "HPE7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "PTCH1 holoprosencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly 7; HPE7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly 7",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly caused by mutation in PTCH1",
            "description": ""
        },
        {
            "id": "MONDO:0012562",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012562",
            "name": "holoprosencephaly type 7",
            "description": ""
        },
        {
            "id": "MIM:610828",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610828",
            "name": "Holoprosencephaly 7",
            "description": "Holoprosencephaly 7"
        }
    ]
}