{
    "disease_id": "DOID:0111800",
    "recommended_name": {
        "id": "DOID:0111800",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111800",
        "name": "syndromic microphthalmia 12",
        "description": "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111800",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111800",
            "name": "MCOPS12",
            "description": ""
        },
        {
            "id": "DOID:0111800",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111800",
            "name": "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic 12",
            "description": "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum ( Chiari type I malformation ) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome."
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "RARB syndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic 12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "MCOPS12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "microphthalmia, syndromic 12; MCOPS12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "syndromic microphthalmia-12",
            "description": ""
        },
        {
            "id": "MONDO:0014229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014229",
            "name": "syndromic microphthalmia caused by mutation in RARB",
            "description": ""
        },
        {
            "id": "MIM:615524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615524",
            "name": "Microphthalmia, syndromic, 12",
            "description": "Microphthalmia, syndromic, 12"
        }
    ]
}