{
    "disease_id": "DOID:0080254",
    "recommended_name": {
        "id": "DOID:0080254",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080254",
        "name": "orofaciodigital syndrome XVI",
        "description": "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "orofaciodigital syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0033045",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "name": "OFD16",
            "description": ""
        },
        {
            "id": "MIM:617563",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617563",
            "name": "Orofaciodigital syndrome 16",
            "description": "Orofaciodigital syndrome 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080254"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080254",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080254",
            "categories": []
        },
        {
            "id": "MONDO:0033045",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033045",
            "categories": []
        },
        {
            "id": "MIM:617563",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617563",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NZZ4-1",
            "uniprot_ac": "Q6NZZ4",
            "uniprot_id": "TM107_DANRE",
            "refseq_ac": "NP_998376",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 107",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 107",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem107",
                    "type": "recommended"
                },
                {
                    "name": "tmem107",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77926",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NZZ4-1",
            "evidence": [
                {
                    "id": "0080254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IK63-1",
            "uniprot_ac": "A0AC58IK63",
            "uniprot_id": "A0AC58IK63_DANRE",
            "refseq_ac": "XP_073794586",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 107",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 107 like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem107l",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-242a8.4",
                    "type": "synonym"
                },
                {
                    "name": "tmem107l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IK63-1",
            "evidence": [
                {
                    "id": "0080254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CPV0-1",
            "uniprot_ac": "Q9CPV0",
            "uniprot_id": "TM107_MOUSE",
            "refseq_ac": "NP_080114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 107",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 107 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem107",
                    "type": "recommended"
                },
                {
                    "name": "1110004B13Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810049P21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem107",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CPV0-1",
            "evidence": [
                {
                    "id": "0080254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UX40-1",
            "uniprot_ac": "Q6UX40",
            "uniprot_id": "TM107_HUMAN",
            "refseq_ac": "NP_115730",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 107",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 107 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM107",
                    "type": "recommended"
                },
                {
                    "name": "DC20",
                    "type": "synonym"
                },
                {
                    "name": "GRVS638",
                    "type": "synonym"
                },
                {
                    "name": "JBTS29",
                    "type": "synonym"
                },
                {
                    "name": "MKS13",
                    "type": "synonym"
                },
                {
                    "name": "PRO1268",
                    "type": "synonym"
                },
                {
                    "name": "TMEM107",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UX40-1",
            "evidence": [
                {
                    "id": "617563",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617563"
                },
                {
                    "id": "0080254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZFW5-1",
            "uniprot_ac": "D3ZFW5",
            "uniprot_id": "TM107_RAT",
            "refseq_ac": "NP_001103118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 107",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 107",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem107",
                    "type": "recommended"
                },
                {
                    "name": "Tmem107",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZFW5-1",
            "evidence": [
                {
                    "id": "0080254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080254"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080254"
}