{
    "disease_id": "DOID:0110186",
    "recommended_name": {
        "id": "DOID:0110186",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110186",
        "name": "Charcot-Marie-Tooth disease type 4D",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "CMT4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "Charcot-Marie-Tooth neuropathy type 4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "HMSN Lom type",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "HMSN-Lom",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "HMSN4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "HMSNL",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D",
            "description": ""
        },
        {
            "id": "DOID:0110186",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "name": "hereditary motor and sensory neuropathy LOM type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease type 4D",
            "description": "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported."
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "CMT4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN, Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN-Lom",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSN4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "HMSNL",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "NDRG1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "hereditary motor ABD sensory neuropathy Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "hereditary motor and sensory neuropathy, Lom type",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "Charcot-Marie-Tooth disease, type 4D",
            "description": ""
        },
        {
            "id": "MONDO:0011085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "name": "NMSL",
            "description": ""
        },
        {
            "id": "MIM:601455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601455",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4D",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110186"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110186",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110186",
            "categories": []
        },
        {
            "id": "MONDO:0011085",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011085",
            "categories": []
        },
        {
            "id": "MIM:601455",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601455",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R8D1-1",
            "uniprot_ac": "F1R8D1",
            "uniprot_id": "F1R8D1_DANRE",
            "refseq_ac": "NP_956986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein NDRG2",
                    "type": "recommended"
                },
                {
                    "name": "N-myc downstream regulated gene 1, like",
                    "type": "synonym"
                },
                {
                    "name": "N-myc downstream regulated gene 1b",
                    "type": "synonym"
                },
                {
                    "name": "n-myc downstream-regulated gene 1b",
                    "type": "synonym"
                },
                {
                    "name": "protein NDRG1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndrg1b",
                    "type": "recommended"
                },
                {
                    "name": "ndrg1b",
                    "type": "synonym"
                },
                {
                    "name": "ndrg1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73047",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R8D1-1",
            "evidence": [
                {
                    "id": "0110186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62433-1",
            "uniprot_ac": "Q62433",
            "uniprot_id": "NDRG1_MOUSE",
            "refseq_ac": "NP_032707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein NDRG1",
                    "type": "recommended"
                },
                {
                    "name": "N-myc downstream regulated 1",
                    "type": "synonym"
                },
                {
                    "name": "N-myc downstream-regulated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ndr1",
                    "type": "synonym"
                },
                {
                    "name": "protein NDRG1",
                    "type": "synonym"
                },
                {
                    "name": "protein Ndr1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndrg1",
                    "type": "recommended"
                },
                {
                    "name": "CAP43",
                    "type": "synonym"
                },
                {
                    "name": "CMT4D",
                    "type": "synonym"
                },
                {
                    "name": "DRG1",
                    "type": "synonym"
                },
                {
                    "name": "HMSNL",
                    "type": "synonym"
                },
                {
                    "name": "NMSL",
                    "type": "synonym"
                },
                {
                    "name": "Ndr1",
                    "type": "synonym"
                },
                {
                    "name": "Ndrg1",
                    "type": "synonym"
                },
                {
                    "name": "Ndrl",
                    "type": "synonym"
                },
                {
                    "name": "PROXY1",
                    "type": "synonym"
                },
                {
                    "name": "RTP",
                    "type": "synonym"
                },
                {
                    "name": "TDD5",
                    "type": "synonym"
                },
                {
                    "name": "Tdd5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62433-1",
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                {
                    "id": "0110186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92597-1",
            "uniprot_ac": "Q92597",
            "uniprot_id": "NDRG1_HUMAN",
            "refseq_ac": "NP_001128714",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein NDRG1",
                    "type": "recommended"
                },
                {
                    "name": "DRG-1",
                    "type": "synonym"
                },
                {
                    "name": "Differentiation-related gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "N-myc downstream-regulated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Nickel-specific induction protein Cap43",
                    "type": "synonym"
                },
                {
                    "name": "RTP",
                    "type": "synonym"
                },
                {
                    "name": "Reducing agents and tunicamycin-responsive protein",
                    "type": "synonym"
                },
                {
                    "name": "Rit42",
                    "type": "synonym"
                },
                {
                    "name": "differentiation-related gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nickel-specific induction protein Cap43",
                    "type": "synonym"
                },
                {
                    "name": "protein NDRG1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein NDRG1",
                    "type": "synonym"
                },
                {
                    "name": "protein regulated by oxygen-1",
                    "type": "synonym"
                },
                {
                    "name": "reducing agents and tunicamycin-responsive protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDRG1",
                    "type": "recommended"
                },
                {
                    "name": "CAP43",
                    "type": "synonym"
                },
                {
                    "name": "CMT4D",
                    "type": "synonym"
                },
                {
                    "name": "DRG-1",
                    "type": "synonym"
                },
                {
                    "name": "DRG1",
                    "type": "synonym"
                },
                {
                    "name": "GC4",
                    "type": "synonym"
                },
                {
                    "name": "HMSNL",
                    "type": "synonym"
                },
                {
                    "name": "NDR1",
                    "type": "synonym"
                },
                {
                    "name": "NDRG1",
                    "type": "synonym"
                },
                {
                    "name": "NMSL",
                    "type": "synonym"
                },
                {
                    "name": "PROXY1",
                    "type": "synonym"
                },
                {
                    "name": "RIT42",
                    "type": "synonym"
                },
                {
                    "name": "RTP",
                    "type": "synonym"
                },
                {
                    "name": "TARG1",
                    "type": "synonym"
                },
                {
                    "name": "TDD5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92597-1",
            "evidence": [
                {
                    "id": "601455",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601455"
                },
                {
                    "id": "0110186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110186"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6JE36-1",
            "uniprot_ac": "Q6JE36",
            "uniprot_id": "NDRG1_RAT",
            "refseq_ac": "NP_001011991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein NDRG1",
                    "type": "recommended"
                },
                {
                    "name": "N-myc downstream regulated gene 1",
                    "type": "synonym"
                },
                {
                    "name": "N-myc downstream-regulated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ndr1",
                    "type": "synonym"
                },
                {
                    "name": "protein NDRG1",
                    "type": "synonym"
                },
                {
                    "name": "protein Ndr1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndrg1",
                    "type": "recommended"
                },
                {
                    "name": "Ndr1",
                    "type": "synonym"
                },
                {
                    "name": "Ndrg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6JE36-1",
            "evidence": [
                {
                    "id": "0110186",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110186"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110186"
}