{
    "disease_id": "DOID:0080698",
    "recommended_name": {
        "id": "DOID:0080698",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080698",
        "name": "Teebi hypertelorism syndrome 1",
        "description": "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0080698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "name": "Opitz GBBB syndrome type II",
            "description": ""
        },
        {
            "id": "DOID:0080698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "name": "SPECC1L-related hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "name": "Teebi hypertelorism syndrome-1",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Teebi hypertelorism syndrome 1",
            "description": "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes."
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Teebi hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Teebi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "hypertelorism, Teebi type",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Brachycephalofrontonasal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "craniofrontonasal dysplasia, Teebi type",
            "description": ""
        },
        {
            "id": "MIM:145420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/145420",
            "name": "Teebi hypertelorism syndrome 1",
            "description": "Teebi hypertelorism syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080698"
    ],
    "unlinked_id_list": []
}