{
    "disease_id": "DOID:0110945",
    "recommended_name": {
        "id": "DOID:0110945",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110945",
        "name": "autosomal recessive osteopetrosis 6",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0110945",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110945",
            "name": "autosomal recessive osteopetrosis intermediate form",
            "description": ""
        },
        {
            "id": "DOID:0110945",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110945",
            "name": "OPTB6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "autosomal recessive osteopetrosis 6",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene."
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "OPTB6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "PLEKHM1 osteopetrosis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "autosomal recessive intermediate osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "autosomal recessive osteopetrosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis (disease) caused by mutation in PLEKHM1",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis autosomal recessive intermediate form",
            "description": ""
        },
        {
            "id": "MONDO:0012679",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012679",
            "name": "osteopetrosis, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MIM:611497",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611497",
            "name": "Osteopetrosis, autosomal recessive 6",
            "description": "Osteopetrosis, autosomal recessive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110945"
    ],
    "unlinked_id_list": []
}