{
    "disease_id": "DOID:0111565",
    "recommended_name": {
        "id": "DOID:0111565",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111565",
        "name": "trichodontoosseous syndrome",
        "description": "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111565",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111565",
            "name": "TDO syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111565",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111565",
            "name": "tricho-dento-osseous syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "tricho-dento-osseous syndrome",
            "description": "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull."
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "TDO",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "TDO syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "TRICHODENTOOSSEOUS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "Tricho Dento Osseous Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "TDO syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "Tricho-dento-osseous syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "enamel hypoplasia and hypocalcification with associated strikingly curly hair",
            "description": ""
        },
        {
            "id": "MONDO:0008592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "name": "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails",
            "description": ""
        },
        {
            "id": "MIM:190320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/190320",
            "name": "Trichodentoosseous syndrome",
            "description": "Trichodentoosseous syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111565"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111565",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111565",
            "categories": []
        },
        {
            "id": "MONDO:0008592",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008592",
            "categories": []
        },
        {
            "id": "MIM:190320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/190320",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q01702-1",
            "uniprot_ac": "Q01702",
            "uniprot_id": "DLX3B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Dlx3b",
                    "type": "recommended"
                },
                {
                    "name": "DLX-3",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less homeobox protein 3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlx3b",
                    "type": "recommended"
                },
                {
                    "name": "dlx3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01702-1",
            "evidence": [
                {
                    "id": "0111565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111565"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64205-1",
            "uniprot_ac": "Q64205",
            "uniprot_id": "DLX3_MOUSE",
            "refseq_ac": "NP_034185",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-3",
                    "type": "recommended"
                },
                {
                    "name": "DII C",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlx3",
                    "type": "recommended"
                },
                {
                    "name": "Dlx-3",
                    "type": "synonym"
                },
                {
                    "name": "Dlx3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64205-1",
            "evidence": [
                {
                    "id": "0111565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111565"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60479-1",
            "uniprot_ac": "O60479",
            "uniprot_id": "DLX3_HUMAN",
            "refseq_ac": "NP_005211",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-3",
                    "type": "recommended"
                },
                {
                    "name": "homeobox protein DLX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLX3",
                    "type": "recommended"
                },
                {
                    "name": "AI4",
                    "type": "synonym"
                },
                {
                    "name": "DLX3",
                    "type": "synonym"
                },
                {
                    "name": "TDO",
                    "type": "synonym"
                }
            ],
            "record_id": "O60479-1",
            "evidence": [
                {
                    "id": "190320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/190320"
                },
                {
                    "id": "0111565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111565"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADD0-1",
            "uniprot_ac": "D4ADD0",
            "uniprot_id": "D4ADD0_RAT",
            "refseq_ac": "NP_001099302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Distal-less homeobox 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlx3",
                    "type": "recommended"
                },
                {
                    "name": "Dlx3",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADD0-1",
            "evidence": [
                {
                    "id": "0111565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111565"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01323-1",
            "uniprot_ac": "P01323",
            "uniprot_id": "INS2_RAT",
            "refseq_ac": "NP_062003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-2",
                    "type": "recommended"
                },
                {
                    "name": "C-peptide",
                    "type": "synonym"
                },
                {
                    "name": "insulin-2 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ins2",
                    "type": "recommended"
                },
                {
                    "name": "CP-II",
                    "type": "synonym"
                },
                {
                    "name": "Ins-2",
                    "type": "synonym"
                },
                {
                    "name": "Ins2",
                    "type": "synonym"
                }
            ],
            "record_id": "P01323-1",
            "evidence": [
                {
                    "id": "0111565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111565"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20009-1",
            "uniprot_ac": "P20009",
            "uniprot_id": "DLL_DROME",
            "refseq_ac": "NP_523857",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein distal-less",
                    "type": "recommended"
                },
                {
                    "name": "CG3629-PA",
                    "type": "synonym"
                },
                {
                    "name": "Distal-less, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Distall-less",
                    "type": "synonym"
                },
                {
                    "name": "Dll-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein brista",
                    "type": "synonym"
                },
                {
                    "name": "brista",
                    "type": "synonym"
                },
                {
                    "name": "distal-less",
                    "type": "synonym"
                },
                {
                    "name": "distalless",
                    "type": "synonym"
                },
                {
                    "name": "distallless",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of Arp",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dll",
                    "type": "recommended"
                },
                {
                    "name": "2.7",
                    "type": "synonym"
                },
                {
                    "name": "Art",
                    "type": "synonym"
                },
                {
                    "name": "BR",
                    "type": "synonym"
                },
                {
                    "name": "Ba",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LP01770",
                    "type": "synonym"
                },
                {
                    "name": "CG3629",
                    "type": "synonym"
                },
                {
                    "name": "DLL",
                    "type": "synonym"
                },
                {
                    "name": "Dll",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3629",
                    "type": "synonym"
                },
                {
                    "name": "E(Arp)",
                    "type": "synonym"
                },
                {
                    "name": "En(Arp)",
                    "type": "synonym"
                },
                {
                    "name": "dll",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01092",
                    "type": "synonym"
                },
                {
                    "name": "l(2)387",
                    "type": "synonym"
                }
            ],
            "record_id": "P20009-1",
            "evidence": [
                {
                    "id": "0111565",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111565"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111565"
}