{
    "disease_id": "DOID:0111811", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "microphthalmia, syndromic type 13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "microphthalmia, syndromic 13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "Maine microphthalmos"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "MCOPS13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "microphthalmia, syndromic 13; MCOPS13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010485", 
            "name": "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111811", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111811", 
            "name": "MCOPS13"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111811", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111811", 
            "name": "Maine microphthalmos"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111811", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111811", 
            "name": "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111811", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111811", 
            "name": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111811", 
        "description": "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111811", 
        "name": "syndromic microphthalmia 13"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111811#disease-associations", 
            "id": "0111811", 
            "database": "Alliance of Genome Resources"
        }
    ]
}