{
    "disease_id": "DOID:0060413",
    "recommended_name": {
        "id": "DOID:0060413",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060413",
        "name": "chromosome 22q11.2 deletion syndrome, distal",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0060413",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060413",
            "name": "distal 22q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "chromosome 22q11.2 deletion syndrome, distal",
            "description": "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours."
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "chromosome 22q11.2 deletion syndrome, distal",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal monosomy 22q11.2",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal del(22)(q11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal 22q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012740",
            "name": "distal chromosome 22Q11.2 deletion syndrome",
            "description": ""
        }
    ]
}