{
    "disease_id": "DOID:0070158",
    "recommended_name": {
        "id": "DOID:0070158",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070158",
        "name": "hereditary sensory neuropathy type 1E",
        "description": "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070158",
            "name": "HSN1E",
            "description": ""
        },
        {
            "id": "DOID:0070158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070158",
            "name": "hereditary sensory neuropathy type IE",
            "description": ""
        },
        {
            "id": "DOID:0070158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070158",
            "name": "HSAN1E",
            "description": ""
        },
        {
            "id": "DOID:0070158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070158",
            "name": "hereditary sensory and autonomic neuropathy type 1E",
            "description": ""
        },
        {
            "id": "DOID:0070158",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070158",
            "name": "hereditary sensory and autonomic neuropathy type IE",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "hereditary sensory neuropathy-deafness-dementia syndrome",
            "description": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13."
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "HSAN1E",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "HSN1E",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "Hereditary Sensory and Autonomic Neuropathy Type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "DNMT1-related dementia, deafness, and sensory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "HSNIE",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "hereditary sensory and autonomic neuropathy type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "hereditary sensory neuropathy with hearing loss and dementia",
            "description": ""
        },
        {
            "id": "MONDO:0013584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "name": "neuropathy, hereditary sensory, type IE",
            "description": ""
        },
        {
            "id": "MIM:614116",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614116",
            "name": "Neuropathy, hereditary sensory, 1E",
            "description": "Neuropathy, hereditary sensory, 1E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070158"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070158",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070158",
            "categories": []
        },
        {
            "id": "MONDO:0013584",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013584",
            "categories": []
        },
        {
            "id": "MIM:614116",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614116",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YUX4-1",
            "uniprot_ac": "A0A8M6YUX4",
            "uniprot_id": "A0A8M6YUX4_DANRE",
            "refseq_ac": "XP_017208641",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnmt1",
                    "type": "recommended"
                },
                {
                    "name": "cb1075",
                    "type": "synonym"
                },
                {
                    "name": "cb983",
                    "type": "synonym"
                },
                {
                    "name": "ddn",
                    "type": "synonym"
                },
                {
                    "name": "dmnt1",
                    "type": "synonym"
                },
                {
                    "name": "dnmt1",
                    "type": "synonym"
                },
                {
                    "name": "fb05h01",
                    "type": "synonym"
                },
                {
                    "name": "mta",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb05h01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YUX4-1",
            "evidence": [
                {
                    "id": "0070158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13864-1",
            "uniprot_ac": "P13864",
            "uniprot_id": "DNMT1_MOUSE",
            "refseq_ac": "NP_001186360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA MTase MmuI",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase (cytosine-5) 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase MmuI",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt1",
                    "type": "synonym"
                },
                {
                    "name": "M.MmuI",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                },
                {
                    "name": "Met-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnmt1",
                    "type": "recommended"
                },
                {
                    "name": "Cxxc9",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt1o",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt1",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                },
                {
                    "name": "MTase",
                    "type": "synonym"
                },
                {
                    "name": "Met-1",
                    "type": "synonym"
                },
                {
                    "name": "Met1",
                    "type": "synonym"
                },
                {
                    "name": "MommeD2",
                    "type": "synonym"
                },
                {
                    "name": "Uim",
                    "type": "synonym"
                },
                {
                    "name": "m.MmuI",
                    "type": "synonym"
                }
            ],
            "record_id": "P13864-1",
            "evidence": [
                {
                    "id": "0070158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26358-1",
            "uniprot_ac": "P26358",
            "uniprot_id": "DNMT1_HUMAN",
            "refseq_ac": "NP_001124295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "CXXC-type zinc finger protein 9",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "DNA (cytosine-5-)-methyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA MTase HsaI",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase HsaI",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt1",
                    "type": "synonym"
                },
                {
                    "name": "M.HsaI",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNMT1",
                    "type": "recommended"
                },
                {
                    "name": "ADCADN",
                    "type": "synonym"
                },
                {
                    "name": "AIM",
                    "type": "synonym"
                },
                {
                    "name": "CXXC9",
                    "type": "synonym"
                },
                {
                    "name": "DNMT1",
                    "type": "synonym"
                },
                {
                    "name": "DNMT",
                    "type": "synonym"
                },
                {
                    "name": "HSN1E",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                },
                {
                    "name": "m.HsaI",
                    "type": "synonym"
                }
            ],
            "record_id": "P26358-1",
            "evidence": [
                {
                    "id": "614116",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614116"
                },
                {
                    "id": "0070158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z330-1",
            "uniprot_ac": "Q9Z330",
            "uniprot_id": "DNMT1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA (cytosine-5)-methyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "DNA MTase RnoIP",
                    "type": "synonym"
                },
                {
                    "name": "DNA methyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "Dnmt1",
                    "type": "synonym"
                },
                {
                    "name": "M.RnoIP",
                    "type": "synonym"
                },
                {
                    "name": "MCMT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnmt1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9Z330-1",
            "evidence": [
                {
                    "id": "0070158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070158"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JUX8-1",
            "uniprot_ac": "A0A0G2JUX8",
            "uniprot_id": "A0A0G2JUX8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Killer cell lectin like receptor C1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klrc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JUX8-1",
            "evidence": [
                {
                    "id": "0070158",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070158"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070158"
}