{
    "disease_id": "DOID:0111248",
    "recommended_name": {
        "id": "DOID:0111248",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111248",
        "name": "cerebrocostomandibular syndrome",
        "description": "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111248",
            "name": "CCM syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111248",
            "name": "CCMS",
            "description": ""
        },
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111248",
            "name": "cerebro-costo-mandibular syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111248",
            "name": "rib gap defects with micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "cerebrocostomandibular syndrome",
            "description": "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis."
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "CCMS",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "rib Gap defects with micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "cerebrocostomandibular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "cerebro-costo-mandibular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "CEREBROCOSTOMANDIBULAR syndrome; CCMS",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "CCM syndrome",
            "description": ""
        },
        {
            "id": "MIM:117650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/117650",
            "name": "Cerebrocostomandibular syndrome",
            "description": "Cerebrocostomandibular syndrome"
        }
    ]
}