{
    "disease_id": "DOID:0070539",
    "recommended_name": {
        "id": "DOID:0070539",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070539",
        "name": "Halperin-Birk syndrome",
        "description": "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22."
    },
    "synonyms": [
        {
            "id": "DOID:0070539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "name": "HLBKS",
            "description": ""
        },
        {
            "id": "DOID:0070539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "name": "NEDSOSB",
            "description": ""
        },
        {
            "id": "DOID:0070539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "name": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES",
            "description": ""
        },
        {
            "id": "MONDO:0032849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "name": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0032849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "name": "Halperin-Birk syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "name": "NEDSOSB",
            "description": ""
        },
        {
            "id": "MIM:618651",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618651",
            "name": "Halperin-Birk syndrome",
            "description": "Halperin-Birk syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070539"
    ],
    "unlinked_id_list": []
}