{
    "disease_id": "DOID:0060732",
    "recommended_name": {
        "id": "DOID:0060732",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060732",
        "name": "chromosome 9p deletion syndrome",
        "description": "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9."
    },
    "synonyms": [
        {
            "id": "DOID:0060732",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060732",
            "name": "9p syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060732",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060732",
            "name": "Alfi syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060732",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060732",
            "name": "monosomy 9p syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "chromosome 9p deletion syndrome",
            "description": "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis."
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "9p deletion",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "9p deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "9p monosomy",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "9p- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "Alfi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "chromosome 9p deletion",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "deletion 9p",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "monosomy 9p",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "monosomy 9p syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "monosomy type 9p",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "partial deletion of chromosome 9p",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "partial deletion of the short arm of chromosome 9",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "partial deletion of the short arm of chromosome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "partial monosomy 9p",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "partial monosomy of chromosome 9p",
            "description": ""
        },
        {
            "id": "MONDO:0008013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008013",
            "name": "partial monosomy of the short arm of chromosome 9",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060732"
    ],
    "unlinked_id_list": []
}