{
    "disease_id": "DOID:0111544",
    "recommended_name": {
        "id": "DOID:0111544",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111544",
        "name": "Guttmacher syndrome",
        "description": "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111544",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111544",
            "name": "preaxial deficiency-postaxial polydactyly-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111544",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111544",
            "name": "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "Guttmacher syndrome",
            "description": "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias."
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "Guttmacher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "preaxial deficiency-postaxial polydactyly-hypospadias syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "preaxial deficiency, postaxial polydactyly and hypospadias",
            "description": ""
        },
        {
            "id": "MONDO:0008301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008301",
            "name": "preaxial deficiency, postaxial polydactyly, and hypospadias",
            "description": ""
        },
        {
            "id": "MIM:176305",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176305",
            "name": "Guttmacher syndrome",
            "description": "Guttmacher syndrome"
        }
    ]
}