{
    "disease_id": "DOID:0060793",
    "recommended_name": {
        "id": "DOID:0060793",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060793",
        "name": "hypomyelinating leukodystrophy 5",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "DOID:0060793",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060793",
            "name": "HLD5",
            "description": ""
        },
        {
            "id": "DOID:0060793",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060793",
            "name": "hypomyelination-congenital cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelinating leukodystrophy 5",
            "description": "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit."
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "FAM126A leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "HLD5",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelinating leukodystrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelination-congenital cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "leukodystrophy caused by mutation in FAM126A",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "leukodystrophy, hypomyelinating, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelination - congenital cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelination and congenital cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "leukodystrophy, hypomyelinating, 5",
            "description": ""
        },
        {
            "id": "MIM:610532",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610532",
            "name": "Leukodystrophy, hypomyelinating, 5",
            "description": "Leukodystrophy, hypomyelinating, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060793"
    ],
    "unlinked_id_list": []
}