{
    "disease_id": "DOID:0090003",
    "recommended_name": {
        "id": "DOID:0090003",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090003",
        "name": "agenesis of the corpus callosum with peripheral neuropathy",
        "description": "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0090003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090003",
            "name": "Andermann syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090003",
            "name": "Charlevoix disease",
            "description": ""
        },
        {
            "id": "DOID:0090003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090003",
            "name": "corpus callosum agenesis-neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of the corpus callosum with peripheral neuropathy",
            "description": "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait."
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "corpus callosum, agenesis of, with neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "hereditary motor and sensory neuropathy with agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "Charlevoix disease",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "corpus callosum agenesis-neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "peripheral neuropathy associated with agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of the corpus callosum with peripheral neuropathy; ACCPN",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "ACCPN",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of corpus callosum with neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "corpus callosum agenesis neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "HMSN/ACC",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of corpus callosum with polyneuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "Andermann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of corpus callosum with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "agenesis of the corpus callosum with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0000902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0000902",
            "name": "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:218000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218000",
            "name": "Agenesis of the corpus callosum, with peripheral neuropathy",
            "description": "Agenesis of the corpus callosum, with peripheral neuropathy"
        }
    ]
}