{
    "disease_id": "DOID:0110200",
    "recommended_name": {
        "id": "DOID:0110200",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110200",
        "name": "Charcot-Marie-Tooth disease dominant intermediate D",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110200",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110200",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D",
            "description": ""
        },
        {
            "id": "DOID:0110200",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110200",
            "name": "CMTDID",
            "description": ""
        },
        {
            "id": "DOID:0110200",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110200",
            "name": "DI-CMTD",
            "description": ""
        },
        {
            "id": "DOID:0110200",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110200",
            "name": "Charcot-Marie-Tooth neuropathy dominant intermediate D",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "Charcot-Marie-Tooth disease dominant intermediate D",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor."
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "CMTDID",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "Charcot-Marie-Tooth disease caused by mutation in MPZ",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type D",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type D",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "DI-CMTD",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "MPZ Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type D",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "Charcot Marie Tooth disease dominant intermediate 3",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate D",
            "description": ""
        },
        {
            "id": "MONDO:0011909",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "name": "MPZ-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:607791",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607791",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate D",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110200"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110200",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110200",
            "categories": []
        },
        {
            "id": "MONDO:0011909",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011909",
            "categories": []
        },
        {
            "id": "MIM:607791",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607791",
            "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": "0110200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110200"
                }
            ]
        },
        {
            "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": "0110200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110200"
                }
            ]
        },
        {
            "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": "607791",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607791"
                },
                {
                    "id": "0110200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110200"
                }
            ]
        },
        {
            "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": "0110200",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110200"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110200"
}