{
    "disease_id": "DOID:0060961",
    "recommended_name": {
        "id": "DOID:0060961",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060961",
        "name": "orofaciodigital syndrome XVIII",
        "description": "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "name": "Oral-facial-digital syndrome with short stature and brachymesophalangy",
            "description": ""
        },
        {
            "id": "DOID:0060961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "name": "Oral-facial-digital syndrome type 18",
            "description": ""
        },
        {
            "id": "DOID:0060961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "name": "Orofaciodigital syndrome type 18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "orofaciodigital syndrome 18",
            "description": "Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features."
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "OFD18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "Ofds 18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "oral-facial-digital syndrome type 18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "oral-facial-digital syndrome with short stature and brachymesophalangy",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "orofaciodigital syndrome type 18",
            "description": ""
        },
        {
            "id": "MIM:617927",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617927",
            "name": "Orofaciodigital syndrome 18",
            "description": "Orofaciodigital syndrome 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060961"
    ],
    "unlinked_id_list": []
}