{
    "disease_id": "DOID:0060254",
    "recommended_name": {
        "id": "DOID:0060254",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060254",
        "name": "Robinow syndrome",
        "description": "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities."
    },
    "synonyms": [
        {
            "id": "DOID:0060254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060254",
            "name": "Robinow dwarfism",
            "description": ""
        },
        {
            "id": "DOID:0060254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060254",
            "name": "fetal face syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060254",
            "name": "acral dysostosis with facial and genital abnormalities",
            "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": "costovertebral segmentation defect with mesomelia",
            "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"
        }
    ],
    "children": [
        {
            "id": "DOID:0060764",
            "label": "autosomal recessive Robinow syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060765",
            "label": "autosomal dominant Robinow syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060766",
            "label": "autosomal dominant Robinow syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060767",
            "label": "autosomal dominant Robinow syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060974",
            "label": "autosomal recessive Robinow syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
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        "DOID:0060767",
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    ],
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    "crossref": [
        {
            "id": "DOID:0060254",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060254",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0009999",
            "categories": []
        },
        {
            "id": "MIM:268310",
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            "url": "https://www.omim.org/entry/268310",
            "categories": []
        }
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                {
                    "name": "hWNT5A",
                    "type": "synonym"
                }
            ],
            "record_id": "P41221-1",
            "evidence": [
                {
                    "id": "0060254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060254"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060254"
}