{
    "disease_id": "DOID:0110506",
    "recommended_name": {
        "id": "DOID:0110506",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110506",
        "name": "autosomal recessive nonsyndromic deafness 49",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110506",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110506",
            "name": "DFNB49",
            "description": ""
        },
        {
            "id": "DOID:0110506",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110506",
            "name": "autosomal recessive deafness 49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "autosomal recessive nonsyndromic hearing loss 49",
            "description": "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness."
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "autosomal recessive nonsyndromic hearing loss 49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "DFNB49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "MARVELD2 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "autosomal recessive deafness 49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "autosomal recessive nonsyndromic deafness 49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "autosomal recessive nonsyndromic deafness type 49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "deafness, autosomal recessive 49",
            "description": ""
        },
        {
            "id": "MONDO:0012420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012420",
            "name": "deafness, autosomal recessive type 49",
            "description": ""
        },
        {
            "id": "MIM:610153",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610153",
            "name": "Deafness, autosomal recessive, 49",
            "description": "Deafness, autosomal recessive, 49"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110506"
    ],
    "unlinked_id_list": []
}
