{
    "disease_id": "DOID:14699",
    "recommended_name": {
        "id": "DOID:14699",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14699",
        "name": "thrombocytopenia-absent radius syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other."
    },
    "synonyms": [
        {
            "id": "DOID:14699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14699",
            "name": "Radial aplasia-thrombocytopenia syndrome",
            "description": ""
        },
        {
            "id": "DOID:14699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14699",
            "name": "Thrombocytopenia with absent radii (TAR) syndrome",
            "description": ""
        },
        {
            "id": "DOID:14699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14699",
            "name": "chromosome 1q21.1 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "thrombocytopenia-absent radius syndrome",
            "description": "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia."
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "chromosome 1Q21.1 deletion syndrome, 200-Kb",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "thrombocytopenia-absent radius syndrome; TAR",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "TAR",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "thrombocytopenia absent radii",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "thrombocytopenia-absent radius syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "chromosome 1q21.1 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "Tar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "TAR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "absent radii and thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "thrombocytopenia with absent radii (TAR) syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "thrombocytopenia absent radius syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010121",
            "name": "radial aplasia-thrombocytopenia syndrome",
            "description": ""
        },
        {
            "id": "MIM:274000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/274000",
            "name": "Thrombocytopenia-absent radius syndrome",
            "description": "Thrombocytopenia-absent radius syndrome"
        }
    ]
}