{
    "disease_id": "DOID:0111802", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "colobomatous microphthalmia-rhizomelic dysplasia syndrome"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
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        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
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            "name": "MCSKS"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
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        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "microphthalmia/coloboma and skeletal dysplasia syndrome; MCSKS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "microphthalmia/coloboma and skeletal dysplasia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "microphthalmia, syndromic 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "microphthalmia-coloboma-rhizomelic skeletal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014380", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014380", 
            "name": "MCOPS14"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111802", 
            "name": "MCOPS14"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111802", 
            "name": "MCSKS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111802", 
            "name": "colobomatous microphthalmia-rhizomelic dysplasia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111802", 
            "name": "microphthalmia/coloboma and skeletal dysplasia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111802", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111802", 
            "name": "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia"
        }, 
        {
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            "description": "", 
            "resource": "MIM", 
            "id": "MIM:615877", 
            "name": "Microphthalmia/coloboma and skeletal dysplasia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111802", 
        "description": "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111802", 
        "name": "syndromic microphthalmia 14"
    }, 
    "evidence": [
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            "id": "615877", 
            "database": "MIM"
        }
    ]
}