{
    "disease_id": "DOID:0070679",
    "recommended_name": {
        "id": "DOID:0070679",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070679",
        "name": "congenital hypomyelinating neuropathy 2",
        "description": "A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070679",
            "name": "CHN2",
            "description": ""
        },
        {
            "id": "MONDO:0020765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020765",
            "name": "neuropathy, congenital hypomyelinating, 2",
            "description": ""
        },
        {
            "id": "MONDO:0020765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020765",
            "name": "CHN2",
            "description": ""
        },
        {
            "id": "MONDO:0020765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020765",
            "name": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2",
            "description": ""
        },
        {
            "id": "MONDO:0020765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020765",
            "name": "hypomyelinating neuropathy, congenital, 2",
            "description": ""
        },
        {
            "id": "MIM:618184",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618184",
            "name": "Neuropathy, congenital hypomyelinating, 2",
            "description": "Neuropathy, congenital hypomyelinating, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070679"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070679",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070679",
            "categories": []
        },
        {
            "id": "MONDO:0020765",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020765",
            "categories": []
        },
        {
            "id": "MIM:618184",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618184",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P25189-1",
            "uniprot_ac": "P25189",
            "uniprot_id": "MYP0_HUMAN",
            "refseq_ac": "NP_000521",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0",
                    "type": "recommended"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy 1B",
                    "type": "synonym"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "Myelin protein zero",
                    "type": "synonym"
                },
                {
                    "name": "myelin peripheral protein",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0 isoform MPZ precursor",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPZ",
                    "type": "recommended"
                },
                {
                    "name": "CMT1B",
                    "type": "synonym"
                },
                {
                    "name": "CMT1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2I",
                    "type": "synonym"
                },
                {
                    "name": "CMT2J",
                    "type": "synonym"
                },
                {
                    "name": "CMT4E",
                    "type": "synonym"
                },
                {
                    "name": "CMTDI3",
                    "type": "synonym"
                },
                {
                    "name": "CMTDID",
                    "type": "synonym"
                },
                {
                    "name": "DSS",
                    "type": "synonym"
                },
                {
                    "name": "HMSNIB",
                    "type": "synonym"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "MPZ",
                    "type": "synonym"
                },
                {
                    "name": "P0",
                    "type": "synonym"
                }
            ],
            "record_id": "P25189-1",
            "evidence": [
                {
                    "id": "618184",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618184"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070679"
}