{
    "disease_id": "DOID:0070674",
    "recommended_name": {
        "id": "DOID:0070674",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070674",
        "name": "autosomal recessive nonsyndromic deafness 120",
        "description": "An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss that has_material_basis_in homozygous mutation in the MINAR2 gene on chromosome 5q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070674",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070674",
            "name": "DFNB120",
            "description": ""
        },
        {
            "id": "MONDO:0859374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859374",
            "name": "hearing loss, autosomal recessive 120",
            "description": ""
        },
        {
            "id": "MONDO:0859374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859374",
            "name": "deafness, autosomal recessive 120",
            "description": ""
        },
        {
            "id": "MIM:620238",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620238",
            "name": "Deafness, autosomal recessive, 120",
            "description": "Deafness, autosomal recessive, 120"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070674"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070674",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070674",
            "categories": []
        },
        {
            "id": "MONDO:0859374",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859374",
            "categories": []
        },
        {
            "id": "MIM:620238",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620238",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P59773-1",
            "uniprot_ac": "P59773",
            "uniprot_id": "MNARL_HUMAN",
            "refseq_ac": "NP_001244237",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Major intrinsically disordered NOTCH2-binding receptor 1-like",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1024 like",
                    "type": "synonym"
                },
                {
                    "name": "Major intrinsically disordered NOTCH2-associated receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane integral NOTCH2-associated receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "UPF0258 protein KIAA1024-like",
                    "type": "synonym"
                },
                {
                    "name": "major intrinsically disordered NOTCH2-associated receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "major intrinsically disordered NOTCH2-binding receptor 1-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MINAR2",
                    "type": "recommended"
                },
                {
                    "name": "DFNB120",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1024L",
                    "type": "synonym"
                },
                {
                    "name": "MINAR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P59773-1",
            "evidence": [
                {
                    "id": "620238",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620238"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070674"
}