{
    "disease_id": "DOID:0080631",
    "recommended_name": {
        "id": "DOID:0080631",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080631",
        "name": "Elsahy-Waters syndrome",
        "description": "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation."
    },
    "synonyms": [
        {
            "id": "DOID:0080631",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080631",
            "name": "branchioskeletogenital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "Elsahy-Waters syndrome",
            "description": "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971."
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "BSG syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "ELSAHY-Waters syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "ESWS",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "Elsahy-Waters syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "brachioskeletogenital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "hypospadias-hypertelorism-coloboma and deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "branchio-skeleto-genital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "Elsahy-Waters syndrome",
            "description": "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971."
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "BSG syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "ELSAHY-Waters syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "ESWS",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "Elsahy-Waters syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "brachioskeletogenital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "hypospadias-hypertelorism-coloboma and deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008885",
            "name": "branchio-skeleto-genital syndrome",
            "description": ""
        },
        {
            "id": "MIM:211380",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211380",
            "name": "Elsahy-Waters syndrome",
            "description": "Elsahy-Waters syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080631"
    ],
    "unlinked_id_list": []
}