{
    "disease_id": "DOID:0060764",
    "recommended_name": {
        "id": "DOID:0060764",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060764",
        "name": "autosomal recessive Robinow syndrome",
        "description": "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060764",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060764",
            "name": "COVESDEM syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060764",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060764",
            "name": "RRS",
            "description": ""
        },
        {
            "id": "DOID:0060764",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060764",
            "name": "costovertebral segmentation defect-mesomelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "autosomal recessive Robinow syndrome",
            "description": "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia."
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "COVESDEM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "RRS",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "Robinow syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "costovertebral segmentation defect-mesomelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "Covesdem syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "Covesdem syndrome, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "costovertebral segmentation defect with mesomelia",
            "description": ""
        },
        {
            "id": "MONDO:0009999",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "name": "costovertebral segmentation defect with mesomelia, formerly",
            "description": ""
        },
        {
            "id": "MIM:268310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/268310",
            "name": "Robinow syndrome, autosomal recessive 1",
            "description": "Robinow syndrome, autosomal recessive 1"
        }
    ]
}