{
    "disease_id": "DOID:0111507",
    "recommended_name": {
        "id": "DOID:0111507",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111507",
        "name": "Lenz-Majewski hyperostotic dwarfism",
        "description": "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111507",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111507",
            "name": "Lenz-Majewski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz-Majewski hyperostotic dwarfism",
            "description": "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis."
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz-Majewski hyperostotic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "LMHD",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz Majewski hyperostotic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "Lenz-Majewski hyperostotic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "hyperostotic dwarfism Lenz-Majewski type",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0007892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007892",
            "name": "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis",
            "description": ""
        },
        {
            "id": "MIM:151050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/151050",
            "name": "Lenz-Majewski hyperostotic dwarfism",
            "description": "Lenz-Majewski hyperostotic dwarfism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111507"
    ],
    "unlinked_id_list": []
}