{
    "disease_id": "DOID:0060793", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "hypomyelination - congenital cataract"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "hypomyelination-congenital cataract syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "leukodystrophy, hypomyelinating, type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "hypomyelination and congenital cataract"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "HLD5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "leukodystrophy caused by mutation in FAM126A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "hypomyelination and congenital cataract: HCC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "leukodystrophy, hypomyelinating, 5; HLD5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "FAM126A leukodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "hypomyelinating leukodystrophy type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012514", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012514", 
            "name": "leukodystrophy, hypomyelinating, 5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060793", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060793", 
            "name": "HLD5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060793", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060793", 
            "name": "hypomyelination-congenital cataract syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/610532", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:610532", 
            "name": "Leukodystrophy, hypomyelinating, 5"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060793", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060793", 
        "name": "hypomyelinating leukodystrophy 5"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610532", 
            "id": "610532", 
            "database": "MIM"
        }
    ]
}