{
    "disease_id": "DOID:0090024",
    "recommended_name": {
        "id": "DOID:0090024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090024",
        "name": "split hand-foot malformation 1 with sensorineural hearing loss",
        "description": "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0090024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090024",
            "name": "SHFM1D",
            "description": ""
        },
        {
            "id": "DOID:0090024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090024",
            "name": "congenital deafness with split hands and feet",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split hand-foot malformation 1 with sensorineural hearing loss",
            "description": "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit."
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "SHFM1D",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split hand-foot malformation 1 with sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split-hand/foot malformation 1 with sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0009080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009080",
            "name": "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:220600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220600",
            "name": "Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive",
            "description": "Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090024"
    ],
    "unlinked_id_list": []
}