{
    "disease_id": "DOID:0090144",
    "recommended_name": {
        "id": "DOID:0090144",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090144",
        "name": "Donnai-Barrow syndrome",
        "description": "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "syndrome of ocular and facial anomalies, telecanthus and deafness",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "DBS/FOAR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "FOAR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "Holmes-Schepens syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "facio-oculo-acoustico-renal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "faciooculoacousticorenal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "diaphragmatic hernia-exomphalos-hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090144",
            "name": "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "Donnai-Barrow syndrome",
            "description": "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common."
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "DBS/FOAR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "Donnai-Barrow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "FOAR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "Holmes-Schepens syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia-exomphalos-hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "facio-oculo-acoustico-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "faciooculoacousticorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "syndrome of ocular and facial anomalies, telecanthus and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009104",
            "name": "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria",
            "description": ""
        },
        {
            "id": "MIM:222448",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222448",
            "name": "Donnai-Barrow syndrome",
            "description": "Donnai-Barrow syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090144"
    ],
    "unlinked_id_list": []
}