{
    "disease_id": "DOID:0111784",
    "recommended_name": {
        "id": "DOID:0111784",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111784",
        "name": "otopalatodigital syndrome type 2",
        "description": "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "OPD2",
            "description": ""
        },
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "Andre syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "OPD II syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "OPD syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "faciopalatoosseous syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "oto-palato-digital syndrome type 2",
            "description": ""
        },
        {
            "id": "DOID:0111784",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111784",
            "name": "otopalatodigital syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "otopalatodigital syndrome type 2",
            "description": "Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder (see this term), and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival."
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "OPD syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "otopalatodigital syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "cranioorodigital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "oto-palato-digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "otopalatodigital syndrome, type II; OPD2",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "OPD 2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "OPD II syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "Andre syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "cranio-oro-digital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "FPO",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "OPD2",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "faciopalatoosseous syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010571",
            "name": "otopalatodigital syndrome, type II",
            "description": ""
        },
        {
            "id": "MIM:304120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304120",
            "name": "Otopalatodigital syndrome 2",
            "description": "Otopalatodigital syndrome 2"
        }
    ]
}