{
    "disease_id": "DOID:0070680",
    "recommended_name": {
        "id": "DOID:0070680",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070680",
        "name": "congenital hypomyelinating neuropathy 3",
        "description": "A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP1 gene on chromosome 17q21. Contractures may also manifest."
    },
    "synonyms": [
        {
            "id": "DOID:0070680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070680",
            "name": "CHN3",
            "description": ""
        },
        {
            "id": "MONDO:0020766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020766",
            "name": "neuropathy, congenital hypomyelinating, 3",
            "description": ""
        },
        {
            "id": "MONDO:0020766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020766",
            "name": "CHN3",
            "description": ""
        },
        {
            "id": "MONDO:0020766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020766",
            "name": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3",
            "description": ""
        },
        {
            "id": "MONDO:0020766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020766",
            "name": "hypomyelinating neuropathy, congenital, 3",
            "description": ""
        },
        {
            "id": "MIM:618186",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618186",
            "name": "Neuropathy, congenital hypomyelinating, 3",
            "description": "Neuropathy, congenital hypomyelinating, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070680"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070680",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070680",
            "categories": []
        },
        {
            "id": "MONDO:0020766",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020766",
            "categories": []
        },
        {
            "id": "MIM:618186",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618186",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P78357-1",
            "uniprot_ac": "P78357",
            "uniprot_id": "CNTP1_HUMAN",
            "refseq_ac": "NP_003623",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Caspr1",
                    "type": "synonym"
                },
                {
                    "name": "Caspr",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-4",
                    "type": "synonym"
                },
                {
                    "name": "caspr1",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "neurexin-4",
                    "type": "synonym"
                },
                {
                    "name": "p190",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTNAP1",
                    "type": "recommended"
                },
                {
                    "name": "CASPR",
                    "type": "synonym"
                },
                {
                    "name": "CHN3",
                    "type": "synonym"
                },
                {
                    "name": "CNTNAP1",
                    "type": "synonym"
                },
                {
                    "name": "CNTNAP",
                    "type": "synonym"
                },
                {
                    "name": "NRXN4",
                    "type": "synonym"
                },
                {
                    "name": "P190",
                    "type": "synonym"
                }
            ],
            "record_id": "P78357-1",
            "evidence": [
                {
                    "id": "618186",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618186"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070680"
}