{
    "disease_id": "DOID:0060316", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "Papillon-league-Psaume syndrome (formerly)"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "Papillon-LC)age-Psaume syndrome"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
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        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "orofaciodigital syndrome I; OFD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "Papillon-Lage-Psaume syndrome"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "OFDSI"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "Papillon-Leage and Psaume syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "oral-Facial-digital syndrome, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "OFD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "oral-facial-digital syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "Papillon-Leage-Psaume syndrome"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "oral facial digital syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "orofaciodigital syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "Ofds 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "oral facial digital syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "OFDI"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010702", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010702", 
            "name": "oral-facial-digital syndrome 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060316", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060316", 
            "name": "Papillon-Leage-Psaume syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060316", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060316", 
            "name": "orofaciodigital syndrome 1"
        }, 
        {
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            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060316", 
            "name": "orofaciodigital syndrome type I"
        }, 
        {
            "url": "https://www.omim.org/entry/311200", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:311200", 
            "name": "Orofaciodigital syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060316", 
        "description": "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060316", 
        "name": "orofaciodigital syndrome I"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/311200", 
            "id": "311200", 
            "database": "MIM"
        }
    ]
}
