{
    "disease_id": "DOID:0060787",
    "recommended_name": {
        "id": "DOID:0060787",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060787",
        "name": "hypomyelinating leukodystrophy 2",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0060787",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060787",
            "name": "Pelizaeus-Merzbacher-like disease due to GJC2 mutation",
            "description": ""
        },
        {
            "id": "DOID:0060787",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060787",
            "name": "HLD2",
            "description": ""
        },
        {
            "id": "DOID:0060787",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060787",
            "name": "PMLD1",
            "description": ""
        },
        {
            "id": "DOID:0060787",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060787",
            "name": "Pelizaeus-Merzbacher-like disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "hypomyelinating leukodystrophy 2",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene."
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "GJC2 leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "HLD2",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "PMLD1",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "Pelizaeus-Merzbacher-like disease due to GJC2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "hypomyelinating leukodystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "leukodystrophy caused by mutation in GJC2",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "leukodystrophy, hypomyelinating, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012125",
            "name": "leukodystrophy, hypomyelinating, 2",
            "description": ""
        },
        {
            "id": "MIM:608804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608804",
            "name": "Leukodystrophy, hypomyelinating, 2",
            "description": "Leukodystrophy, hypomyelinating, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060787"
    ],
    "unlinked_id_list": []
}