{
    "disease_id": "DOID:0060410",
    "recommended_name": {
        "id": "DOID:0060410",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060410",
        "name": "chromosome 1p36 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears."
    },
    "synonyms": [
        {
            "id": "DOID:0060410",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060410",
            "name": "1p36 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060410",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060410",
            "name": "deletion 1p36",
            "description": ""
        },
        {
            "id": "DOID:0060410",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060410",
            "name": "monosomy 1p36",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "chromosome 1p36 deletion syndrome",
            "description": "1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency."
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "monosomy 1P36 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "monosomy 1p36",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "1p Telomere Deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "deletion 1p36",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "deletion 1pter",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "1p36 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "monosomy 1pter",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "chromosome 1p36 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "subtelomeric 1p36 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "Del(1)(p36)",
            "description": ""
        }
    ]
}