{
    "disease_id": "DOID:0070119",
    "recommended_name": {
        "id": "DOID:0070119",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070119",
        "name": "Meckel syndrome 5",
        "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070119",
            "name": "MKS5",
            "description": ""
        },
        {
            "id": "DOID:0070119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070119",
            "name": "Meckel-Gruber syndrome, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012695",
            "name": "Meckel syndrome, type 5",
            "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene."
        },
        {
            "id": "MONDO:0012695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012695",
            "name": "MKS5",
            "description": ""
        },
        {
            "id": "MONDO:0012695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012695",
            "name": "Meckel syndrome caused by mutation in RPGRIP1L",
            "description": ""
        },
        {
            "id": "MONDO:0012695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012695",
            "name": "Meckel syndrome, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012695",
            "name": "RPGRIP1L Meckel syndrome",
            "description": ""
        },
        {
            "id": "MIM:611561",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611561",
            "name": "Meckel syndrome 5",
            "description": "Meckel syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070119"
    ],
    "unlinked_id_list": []
}
