{
    "disease_id": "DOID:0112304",
    "recommended_name": {
        "id": "DOID:0112304",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112304",
        "name": "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type",
        "description": "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112304",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112304",
            "name": "Megarbane-Dagher-Melike type chondrodysplasia",
            "description": ""
        },
        {
            "id": "DOID:0112304",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112304",
            "name": "SMDMDM",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type",
            "description": "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene."
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "PAM16 spondylodysplastic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "spondylodysplastic dysplasia caused by mutation in PAM16",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "SMDMDM",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "autosomal recessive spondylometaphyseal dysplasia, Mgarban type",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "chondrodysplasia, Megarbane-Dagher-Melki type",
            "description": ""
        },
        {
            "id": "MONDO:0013223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013223",
            "name": "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type",
            "description": ""
        },
        {
            "id": "MIM:613320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613320",
            "name": "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type",
            "description": "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112304"
    ],
    "unlinked_id_list": []
}