{
    "disease_id": "DOID:0111382",
    "recommended_name": {
        "id": "DOID:0111382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111382",
        "name": "ischiocoxopodopatellar syndrome",
        "description": "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "SPS",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "Scott-Taor syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "coxo-podo-patellar syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "coxopodipatellar syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "ischiopatellar dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "patella aplasia, coxa vara, and tarsal synostosis",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "small patella syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "name": "congenital coxa vara, patella aplasia and tarsal synostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "coxopodopatellar syndrome",
            "description": "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis."
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "Scott-Taor syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "coxopodopatellar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "ischiopatellar dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "small patella syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "Coxo-podo-patellar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "ICPPS",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "SPS",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "congenital coxa vara, patella aplasia and tarsal synostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "name": "patella aplasia, coxa vara, tarsal synostosis",
            "description": ""
        },
        {
            "id": "MIM:147891",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/147891",
            "name": "Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension",
            "description": "Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111382"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111382",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111382",
            "categories": []
        },
        {
            "id": "MONDO:0007841",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007841",
            "categories": []
        },
        {
            "id": "MIM:147891",
            "database": "MIM",
            "url": "https://www.omim.org/entry/147891",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T509-1",
            "uniprot_ac": "A0AB32T509",
            "uniprot_id": "A0AB32T509_DANRE",
            "refseq_ac": "NP_570989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box 4",
                    "type": "synonym"
                },
                {
                    "name": "T-box gene 4",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX4",
                    "type": "synonym"
                },
                {
                    "name": "pelvic finless",
                    "type": "synonym"
                },
                {
                    "name": "pfl",
                    "type": "synonym"
                },
                {
                    "name": "unm_zf358",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx4",
                    "type": "recommended"
                },
                {
                    "name": "tbx4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T509-1",
            "evidence": [
                {
                    "id": "0111382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70325-1",
            "uniprot_ac": "P70325",
            "uniprot_id": "TBX4_MOUSE",
            "refseq_ac": "NP_035666",
            "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 TBX4",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 4",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx4",
                    "type": "recommended"
                },
                {
                    "name": "3930401C23",
                    "type": "synonym"
                },
                {
                    "name": "Tbx4",
                    "type": "synonym"
                }
            ],
            "record_id": "P70325-1",
            "evidence": [
                {
                    "id": "0111382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57082-1",
            "uniprot_ac": "P57082",
            "uniprot_id": "TBX4_HUMAN",
            "refseq_ac": "NP_001308049",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX4",
                    "type": "recommended"
                },
                {
                    "name": "T-box 4",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 4",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX4",
                    "type": "recommended"
                },
                {
                    "name": "ICPPS",
                    "type": "synonym"
                },
                {
                    "name": "PAPPAS",
                    "type": "synonym"
                },
                {
                    "name": "SPS",
                    "type": "synonym"
                },
                {
                    "name": "TBX4",
                    "type": "synonym"
                }
            ],
            "record_id": "P57082-1",
            "evidence": [
                {
                    "id": "147891",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/147891"
                },
                {
                    "id": "0111382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LSF9-1",
            "uniprot_ac": "A0ABK0LSF9",
            "uniprot_id": "A0ABK0LSF9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LSF9-1",
            "evidence": [
                {
                    "id": "0111382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111382"
}