{
    "disease_id": "DOID:0060408",
    "recommended_name": {
        "id": "DOID:0060408",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060408",
        "name": "chromosome 19q13.11 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties."
    },
    "synonyms": [
        {
            "id": "DOID:0060408",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060408",
            "name": "19q13.11 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060408",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060408",
            "name": "monosomy 19q13.11",
            "description": ""
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "chromosome 19q13.11 deletion syndrome",
            "description": "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails."
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "monosomy 19q13.11",
            "description": ""
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "19q13.11 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "chromosome 19Q13.11 deletion syndrome, distal",
            "description": ""
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "chromosome 19q13.11 deletion syndrome, distal",
            "description": ""
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "Del(19)(q13.11)",
            "description": ""
        },
        {
            "id": "MONDO:0013090",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013090",
            "name": "chromosome 19q13.11 deletion syndrome",
            "description": ""
        }
    ]
}