{
    "disease_id": "DOID:0060468",
    "recommended_name": {
        "id": "DOID:0060468",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060468",
        "name": "Holt-Oram syndrome",
        "description": "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb."
    },
    "synonyms": [
        {
            "id": "DOID:0060468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060468",
            "name": "atrio-digital syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060468",
            "name": "atriodigital dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060468",
            "name": "heart-hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "Holt-Oram syndrome",
            "description": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects."
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "atrio digital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
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            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "atriodigital dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "heart-hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "HOLT-Oram syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "HOS",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "Holt Oram Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "Holt-Oram syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "atriodigital dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "heart-hand syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "Cardiac-limb syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "HOS 1",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "heart-hand syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007732",
            "name": "ventriculo-radial syndrome",
            "description": ""
        },
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            "url": "https://www.omim.org/entry/142900",
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            "description": "Holt-Oram syndrome"
        }
    ],
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            "categories": []
        },
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            "categories": []
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            "categories": []
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sal-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 797",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein SALL4",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 797",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein SALL4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SALL4",
                    "type": "recommended"
                },
                {
                    "name": "DRRS",
                    "type": "synonym"
                },
                {
                    "name": "HSAL4",
                    "type": "synonym"
                },
                {
                    "name": "IVIC",
                    "type": "synonym"
                },
                {
                    "name": "SALL4",
                    "type": "synonym"
                },
                {
                    "name": "ZNF797",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJQ4-1",
            "evidence": [
                {
                    "id": "0060468",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060468"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060468"
}
