{
    "disease_id": "DOID:0112151",
    "recommended_name": {
        "id": "DOID:0112151",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112151",
        "name": "corpus callosum agenesis-abnormal genitalia syndrome",
        "description": "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112151",
            "name": "ACC with abnormal genitalia",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112151",
            "name": "Proud syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112151",
            "name": "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112151",
            "name": "Proud-Levine-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112151",
            "name": "corpus callosum agenesis with abnormal genitalia",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "corpus callosum agenesis-abnormal genitalia syndrome",
            "description": "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed."
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "Proud syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "corpus callosum, agenesis of, with abnormal genitalia",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "ACC with abnormal genitalia",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "Proud Levine Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "ACC-abnormal genitalia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "Proud-Levine-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MIM:300004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300004",
            "name": "Agenesis of the corpus callosum, with abnormal genitalia",
            "description": "Agenesis of the corpus callosum, with abnormal genitalia"
        }
    ]
}