{
    "disease_id": "DOID:0110158",
    "recommended_name": {
        "id": "DOID:0110158",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110158",
        "name": "Charcot-Marie-Tooth disease type 2I",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110158",
            "name": "CMT2I",
            "description": ""
        },
        {
            "id": "DOID:0110158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110158",
            "name": "Charcot-Marie-Tooth neuropathy type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot-Marie-Tooth disease type 2I",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes."
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "CMT2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot-Marie-Tooth disease, type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "CMT 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot Marie Tooth disease type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011889",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2I",
            "description": ""
        },
        {
            "id": "MIM:607677",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607677",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2I",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110158"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110158",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110158",
            "categories": []
        },
        {
            "id": "MONDO:0011889",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011889",
            "categories": []
        },
        {
            "id": "MIM:607677",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607677",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QN30-1",
            "uniprot_ac": "A0A2R8QN30",
            "uniprot_id": "A0A2R8QN30_DANRE",
            "refseq_ac": "XP_017213076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein P0 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpz",
                    "type": "recommended"
                },
                {
                    "name": "mpz",
                    "type": "synonym"
                },
                {
                    "name": "p0",
                    "type": "synonym"
                },
                {
                    "name": "sc:d0186",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc04b11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi30g06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103775",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QN30-1",
            "evidence": [
                {
                    "id": "0110158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27573-1",
            "uniprot_ac": "P27573",
            "uniprot_id": "MYP0_MOUSE",
            "refseq_ac": "NP_001302428",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0",
                    "type": "recommended"
                },
                {
                    "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": "Mpp",
                    "type": "synonym"
                },
                {
                    "name": "Mpz",
                    "type": "synonym"
                },
                {
                    "name": "P-zero",
                    "type": "synonym"
                },
                {
                    "name": "P0",
                    "type": "synonym"
                }
            ],
            "record_id": "P27573-1",
            "evidence": [
                {
                    "id": "0110158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110158"
                }
            ]
        },
        {
            "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": "607677",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607677"
                },
                {
                    "id": "0110158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06907-1",
            "uniprot_ac": "P06907",
            "uniprot_id": "MYP0_RAT",
            "refseq_ac": "NP_058723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein P0",
                    "type": "recommended"
                },
                {
                    "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"
                },
                {
                    "name": "myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpz",
                    "type": "recommended"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Mpz",
                    "type": "synonym"
                },
                {
                    "name": "P0",
                    "type": "synonym"
                }
            ],
            "record_id": "P06907-1",
            "evidence": [
                {
                    "id": "0110158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110158"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110158"
}