{
    "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": []
}
