{
    "disease_id": "DOID:0060795",
    "recommended_name": {
        "id": "DOID:0060795",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060795",
        "name": "hypomyelinating leukodystrophy 13",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14."
    },
    "synonyms": [
        {
            "id": "DOID:0060795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060795",
            "name": "HLD13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "hypomyelinating leukodystrophy 13",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene."
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "HIKESHI leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "HLD13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "hikeshi leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "hypomyelinating leukodystrophy type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy caused by mutation in HIKESHI",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy caused by mutation in hikeshi",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy, hypomyelinating, 13",
            "description": ""
        },
        {
            "id": "MONDO:0014813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014813",
            "name": "leukodystrophy, hypomyelinating, type 13",
            "description": ""
        },
        {
            "id": "MIM:616881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616881",
            "name": "Leukodystrophy, hypomyelinating, 13",
            "description": "Leukodystrophy, hypomyelinating, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060795"
    ],
    "unlinked_id_list": []
}