{
    "disease_id": "DOID:0080268",
    "recommended_name": {
        "id": "DOID:0080268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080268",
        "name": "autosomal dominant nonsyndromic deafness 72",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033259",
            "name": "hearing loss, autosomal dominant 72",
            "description": ""
        },
        {
            "id": "MONDO:0033259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033259",
            "name": "DFNA72",
            "description": ""
        },
        {
            "id": "MONDO:0033259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033259",
            "name": "autosomal dominant nonsyndromic deafness 72",
            "description": ""
        },
        {
            "id": "MONDO:0033259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033259",
            "name": "deafness, autosomal dominant 72",
            "description": ""
        },
        {
            "id": "MIM:617606",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617606",
            "name": "Deafness, autosomal dominant, 72",
            "description": "Deafness, autosomal dominant, 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080268"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080268",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080268",
            "categories": []
        },
        {
            "id": "MONDO:0033259",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033259",
            "categories": []
        },
        {
            "id": "MIM:617606",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617606",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T2B0-1",
            "uniprot_ac": "Q7T2B0",
            "uniprot_id": "CTL4_DANRE",
            "refseq_ac": "NP_956707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline transporter-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 44 member 4",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc44a4",
                    "type": "recommended"
                },
                {
                    "name": "ctl4",
                    "type": "synonym"
                },
                {
                    "name": "slc44a4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64108",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T2B0-1",
            "evidence": [
                {
                    "id": "0080268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VA1-1",
            "uniprot_ac": "Q91VA1",
            "uniprot_id": "CTL4_MOUSE",
            "refseq_ac": "NP_076046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline transporter-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 44 member 4",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine pyrophosphate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mTPPT1",
                    "type": "synonym"
                },
                {
                    "name": "thiamine pyrophosphate transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc44a4",
                    "type": "recommended"
                },
                {
                    "name": "2210409B01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ctl4",
                    "type": "synonym"
                },
                {
                    "name": "NG22",
                    "type": "synonym"
                },
                {
                    "name": "Ng22",
                    "type": "synonym"
                },
                {
                    "name": "Slc44a4",
                    "type": "synonym"
                },
                {
                    "name": "TPPT1",
                    "type": "synonym"
                },
                {
                    "name": "mTPPT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VA1-1",
            "evidence": [
                {
                    "id": "0080268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53GD3-1",
            "uniprot_ac": "Q53GD3",
            "uniprot_id": "CTL4_HUMAN",
            "refseq_ac": "NP_001171515",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline transporter-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 44 member 4",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine pyrophosphate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter-like protein 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "hTPPT1",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 48",
                    "type": "synonym"
                },
                {
                    "name": "thiamine pyrophosphate transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC44A4",
                    "type": "recommended"
                },
                {
                    "name": "C6orf29",
                    "type": "synonym"
                },
                {
                    "name": "CTL4",
                    "type": "synonym"
                },
                {
                    "name": "DFNA72",
                    "type": "synonym"
                },
                {
                    "name": "NG22",
                    "type": "synonym"
                },
                {
                    "name": "PRO874",
                    "type": "synonym"
                },
                {
                    "name": "SLC44A4",
                    "type": "synonym"
                },
                {
                    "name": "TPPT1",
                    "type": "synonym"
                },
                {
                    "name": "TPPT",
                    "type": "synonym"
                },
                {
                    "name": "hTPPT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53GD3-1",
            "evidence": [
                {
                    "id": "617606",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617606"
                },
                {
                    "id": "0080268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6MG71-1",
            "uniprot_ac": "Q6MG71",
            "uniprot_id": "CTL4_RAT",
            "refseq_ac": "NP_997706",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline transporter-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 44 member 4",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine pyrophosphate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "thiamine pyrophosphate transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc44a4",
                    "type": "recommended"
                },
                {
                    "name": "Ctl4",
                    "type": "synonym"
                },
                {
                    "name": "Ng22",
                    "type": "synonym"
                },
                {
                    "name": "Slc44a4",
                    "type": "synonym"
                },
                {
                    "name": "TPPT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6MG71-1",
            "evidence": [
                {
                    "id": "0080268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAP3-1",
            "uniprot_ac": "Q9VAP3",
            "uniprot_id": "CTL12_DROME",
            "refseq_ac": "NP_651670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline transporter-like 2",
                    "type": "recommended"
                },
                {
                    "name": "CG11880-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ctl2-PA",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter (CTL)-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter-like 2, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctl2",
                    "type": "recommended"
                },
                {
                    "name": "CG11880",
                    "type": "synonym"
                },
                {
                    "name": "CTLH2",
                    "type": "synonym"
                },
                {
                    "name": "Ctl2",
                    "type": "synonym"
                },
                {
                    "name": "DmCTL2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11880",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAP3-1",
            "evidence": [
                {
                    "id": "0080268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080268"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080268"
}