{
    "disease_id": "DOID:0111780",
    "recommended_name": {
        "id": "DOID:0111780",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111780",
        "name": "TARP syndrome",
        "description": "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in RBM10 on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111780",
            "name": "TARPS",
            "description": ""
        },
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111780",
            "name": "Pierre Robin syndrome-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111780",
            "name": "Pierre Robin sequence-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111780",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111780",
            "name": "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "tarp syndrome",
            "description": "TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months."
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin syndrome with congenital heart malformation and clubfoot",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "tarp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "TARPS",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin sequence-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin syndrome-congenital heart defect-talipes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "tarp syndrome; TARPS",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin syndrome - congenital heart defect - talipes",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "Pierre Robin sequence - congenital heart defect - talipes",
            "description": ""
        },
        {
            "id": "MONDO:0010711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010711",
            "name": "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava",
            "description": ""
        },
        {
            "id": "MIM:311900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311900",
            "name": "TARP syndrome",
            "description": "TARP syndrome"
        }
    ]
}