{
    "disease_id": "DOID:0070669",
    "recommended_name": {
        "id": "DOID:0070669",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070669",
        "name": "autosomal recessive nonsyndromic deafness 122",
        "description": "An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070669",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070669",
            "name": "DFNB122",
            "description": ""
        },
        {
            "id": "MONDO:0958228",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958228",
            "name": "hearing loss, autosomal recessive 122",
            "description": ""
        },
        {
            "id": "MONDO:0958228",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958228",
            "name": "deafness, autosomal recessive 122",
            "description": ""
        },
        {
            "id": "MIM:620714",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620714",
            "name": "Deafness, autosomal recessive, 122",
            "description": "Deafness, autosomal recessive, 122"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070669"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070669",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070669",
            "categories": []
        },
        {
            "id": "MONDO:0958228",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958228",
            "categories": []
        },
        {
            "id": "MIM:620714",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620714",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5T4D3-1",
            "uniprot_ac": "Q5T4D3",
            "uniprot_id": "TMTC4_HUMAN",
            "refseq_ac": "NP_001073137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase TMTC4",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane O-mannosyltransferase targeting cadherins 4",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane and tetratricopeptide repeat-containing 4",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase TMTC4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase TMTC4",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and TPR repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane and tetratricopeptide repeat containing 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMTC4",
                    "type": "recommended"
                },
                {
                    "name": "DFNB122",
                    "type": "synonym"
                },
                {
                    "name": "TMTC4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T4D3-1",
            "evidence": [
                {
                    "id": "620714",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620714"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070669"
}