{
    "disease_id": "DOID:0060614",
    "recommended_name": {
        "id": "DOID:0060614",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060614",
        "name": "ulnar-mammary syndrome",
        "description": "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060614",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060614",
            "name": "Pallister ulnar-mammary syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060614",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060614",
            "name": "Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ulnar-mammary syndrome",
            "description": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described."
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "Pallister ulnar-mammary syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "Schinzel Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "Schinzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "UMS",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ulnar-mammary syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ums",
            "description": ""
        },
        {
            "id": "MONDO:0008411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "name": "ulnar-mammary syndrome of Pallister",
            "description": ""
        },
        {
            "id": "MIM:181450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/181450",
            "name": "Ulnar-mammary syndrome",
            "description": "Ulnar-mammary syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060614"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060614",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060614",
            "categories": []
        },
        {
            "id": "MONDO:0008411",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008411",
            "categories": []
        },
        {
            "id": "MIM:181450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/181450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QV06-1",
            "uniprot_ac": "F1QV06",
            "uniprot_id": "F1QV06_DANRE",
            "refseq_ac": "XP_002662050",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx3b",
                    "type": "recommended"
                },
                {
                    "name": "tbx3b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QV06-1",
            "evidence": [
                {
                    "id": "0060614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8JKS6-1",
            "uniprot_ac": "B8JKS6",
            "uniprot_id": "B8JKS6_DANRE",
            "refseq_ac": "NP_001095140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box 3a",
                    "type": "synonym"
                },
                {
                    "name": "T-box 3b",
                    "type": "synonym"
                },
                {
                    "name": "T-box gene B",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx3a",
                    "type": "recommended"
                },
                {
                    "name": "tbx-b",
                    "type": "synonym"
                },
                {
                    "name": "tbx3a",
                    "type": "synonym"
                },
                {
                    "name": "tbx3b",
                    "type": "synonym"
                },
                {
                    "name": "tbx3",
                    "type": "synonym"
                },
                {
                    "name": "tbxb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158110",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JKS6-1",
            "evidence": [
                {
                    "id": "0060614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70324-1",
            "uniprot_ac": "P70324",
            "uniprot_id": "TBX3_MOUSE",
            "refseq_ac": "NP_035665",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 3",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx3",
                    "type": "recommended"
                },
                {
                    "name": "D5Ertd189e",
                    "type": "synonym"
                },
                {
                    "name": "Tbx3",
                    "type": "synonym"
                }
            ],
            "record_id": "P70324-1",
            "evidence": [
                {
                    "id": "0060614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15119-1",
            "uniprot_ac": "O15119",
            "uniprot_id": "TBX3_HUMAN",
            "refseq_ac": "NP_005987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "recommended"
                },
                {
                    "name": "T-box 3",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 3",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "synonym"
                },
                {
                    "name": "bladder cancer related protein XHL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX3",
                    "type": "recommended"
                },
                {
                    "name": "TBX3-ISO",
                    "type": "synonym"
                },
                {
                    "name": "TBX3",
                    "type": "synonym"
                },
                {
                    "name": "UMS",
                    "type": "synonym"
                },
                {
                    "name": "XHL",
                    "type": "synonym"
                }
            ],
            "record_id": "O15119-1",
            "evidence": [
                {
                    "id": "181450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/181450"
                },
                {
                    "id": "0060614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TST9-1",
            "uniprot_ac": "Q7TST9",
            "uniprot_id": "TBX3_RAT",
            "refseq_ac": "NP_853669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "recommended"
                },
                {
                    "name": "T-box 3 (ulnar mammary syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 3",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx3",
                    "type": "recommended"
                },
                {
                    "name": "Tbx3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TST9-1",
            "evidence": [
                {
                    "id": "0060614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060614"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24432-1",
            "uniprot_ac": "Q24432",
            "uniprot_id": "OMB_DROME",
            "refseq_ac": "NP_001162662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optomotor-blind protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3578-PB",
                    "type": "synonym"
                },
                {
                    "name": "L(1)omb",
                    "type": "synonym"
                },
                {
                    "name": "Lethal(1)optomotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "Optimotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "Protein bifid",
                    "type": "synonym"
                },
                {
                    "name": "bi-PB",
                    "type": "synonym"
                },
                {
                    "name": "bifid, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "lethal(l)optomotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "opomoter-blind",
                    "type": "synonym"
                },
                {
                    "name": "optimotor blind",
                    "type": "synonym"
                },
                {
                    "name": "optomer-blind",
                    "type": "synonym"
                },
                {
                    "name": "optomoter blind",
                    "type": "synonym"
                },
                {
                    "name": "optomoter-blind",
                    "type": "synonym"
                },
                {
                    "name": "optomotor blind",
                    "type": "synonym"
                },
                {
                    "name": "optomotor-blind gene",
                    "type": "synonym"
                },
                {
                    "name": "optomotor-blind",
                    "type": "synonym"
                },
                {
                    "name": "optomotorblind",
                    "type": "synonym"
                },
                {
                    "name": "quadroon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bi",
                    "type": "recommended"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "CG3578",
                    "type": "synonym"
                },
                {
                    "name": "Dm-OMB",
                    "type": "synonym"
                },
                {
                    "name": "Dm-omb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3578",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3578",
                    "type": "synonym"
                },
                {
                    "name": "OMB",
                    "type": "synonym"
                },
                {
                    "name": "Omb",
                    "type": "synonym"
                },
                {
                    "name": "Qd",
                    "type": "synonym"
                },
                {
                    "name": "T3",
                    "type": "synonym"
                },
                {
                    "name": "TBX2",
                    "type": "synonym"
                },
                {
                    "name": "bi",
                    "type": "synonym"
                },
                {
                    "name": "dm-omb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)bi",
                    "type": "synonym"
                },
                {
                    "name": "l(1)omb",
                    "type": "synonym"
                },
                {
                    "name": "omb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24432-1",
            "evidence": [
                {
                    "id": "0060614",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060614"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060614"
}