{
    "disease_id": "DOID:0070151",
    "recommended_name": {
        "id": "DOID:0070151",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070151",
        "name": "hereditary sensory and autonomic neuropathy type 6",
        "description": "A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070151",
            "name": "HSAN6",
            "description": ""
        },
        {
            "id": "DOID:0070151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070151",
            "name": "hereditary sensory and autonomic neuropathy type VI",
            "description": ""
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "hereditary sensory and autonomic neuropathy type 6",
            "description": "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene."
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "DST hereditary sensory and autonomic neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "HSAN6",
            "description": ""
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "familial dysautonomia with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "hereditary sensory and autonomic neuropathy caused by mutation in DST",
            "description": ""
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "hereditary sensory and autonomic neuropathy type VI",
            "description": ""
        },
        {
            "id": "MONDO:0013839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "name": "neuropathy, hereditary sensory and autonomic, type VI",
            "description": ""
        },
        {
            "id": "MIM:614653",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614653",
            "name": "Neuropathy, hereditary sensory and autonomic, 6",
            "description": "Neuropathy, hereditary sensory and autonomic, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070151"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070151",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070151",
            "categories": []
        },
        {
            "id": "MONDO:0013839",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013839",
            "categories": []
        },
        {
            "id": "MIM:614653",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614653",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q91ZU6",
            "uniprot_id": "DYST_MOUSE",
            "refseq_ac": "NP_034211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystonin",
                    "type": "recommended"
                },
                {
                    "name": "BPA",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "Hemidesmosomal plaque protein",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule actin cross-linking factor 2",
                    "type": "synonym"
                },
                {
                    "name": "dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonin isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "hemidesmosomal plaque protein",
                    "type": "synonym"
                },
                {
                    "name": "microtubule actin cross-linking factor 2",
                    "type": "synonym"
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            "gene_names": [
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                    "name": "Dst",
                    "type": "recommended"
                },
                {
                    "name": "2310001O04Rik",
                    "type": "synonym"
                },
                {
                    "name": "A830042E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "BP230",
                    "type": "synonym"
                },
                {
                    "name": "BPAG1-n",
                    "type": "synonym"
                },
                {
                    "name": "Bpag1",
                    "type": "synonym"
                },
                {
                    "name": "Bpag",
                    "type": "synonym"
                },
                {
                    "name": "Dst",
                    "type": "synonym"
                },
                {
                    "name": "Macf2",
                    "type": "synonym"
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                {
                    "name": "ah",
                    "type": "synonym"
                },
                {
                    "name": "athetoid",
                    "type": "synonym"
                },
                {
                    "name": "dt",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0728",
                    "type": "synonym"
                },
                {
                    "name": "nmf203",
                    "type": "synonym"
                },
                {
                    "name": "nmf339",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZU6-1",
            "evidence": [
                {
                    "id": "0070151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03001-7",
            "uniprot_ac": "Q03001",
            "uniprot_id": "DYST_HUMAN",
            "refseq_ac": "NP_001138242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Dystonin",
                    "type": "recommended"
                },
                {
                    "name": "230 kDa bullous pemphigoid antigen",
                    "type": "synonym"
                },
                {
                    "name": "230/240 kDa bullous pemphigoid antigen",
                    "type": "synonym"
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                    "name": "BPA",
                    "type": "synonym"
                },
                {
                    "name": "Bullous pemphigoid antigen 1",
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                },
                {
                    "name": "Bullous pemphigoid antigen",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "Hemidesmosomal plaque protein",
                    "type": "synonym"
                },
                {
                    "name": "bullous pemphigoid antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "bullous pemphigoid antigen",
                    "type": "synonym"
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                    "name": "dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonin isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "hemidesmosomal plaque protein",
                    "type": "synonym"
                },
                {
                    "name": "trabeculin-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DST",
                    "type": "recommended"
                },
                {
                    "name": "BP230",
                    "type": "synonym"
                },
                {
                    "name": "BP240",
                    "type": "synonym"
                },
                {
                    "name": "BPAG1",
                    "type": "synonym"
                },
                {
                    "name": "BPA",
                    "type": "synonym"
                },
                {
                    "name": "CATX-15",
                    "type": "synonym"
                },
                {
                    "name": "CATX15",
                    "type": "synonym"
                },
                {
                    "name": "CMYO29",
                    "type": "synonym"
                },
                {
                    "name": "D6S1101",
                    "type": "synonym"
                },
                {
                    "name": "DMH",
                    "type": "synonym"
                },
                {
                    "name": "DST",
                    "type": "synonym"
                },
                {
                    "name": "DT",
                    "type": "synonym"
                },
                {
                    "name": "EBS3",
                    "type": "synonym"
                },
                {
                    "name": "EBSB2",
                    "type": "synonym"
                },
                {
                    "name": "HSAN6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0728",
                    "type": "synonym"
                },
                {
                    "name": "LCCS12",
                    "type": "synonym"
                },
                {
                    "name": "MACF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03001-7",
            "evidence": [
                {
                    "id": "614653",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614653"
                },
                {
                    "id": "0070151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQD4-1",
            "uniprot_ac": "A0A8I5ZQD4",
            "uniprot_id": "A0A8I5ZQD4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystonin",
                    "type": "recommended"
                },
                {
                    "name": "Bullous pemphigoid antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia musculorum protein",
                    "type": "synonym"
                },
                {
                    "name": "Hemidesmosomal plaque protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dst",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZQD4-1",
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                {
                    "id": "0070151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9J3-1",
            "uniprot_ac": "A1Z9J3",
            "uniprot_id": "A1Z9J3_DROME",
            "refseq_ac": "NP_725339",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG18076-PH",
                    "type": "synonym"
                },
                {
                    "name": "Short stop, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of NA9 2-12",
                    "type": "synonym"
                },
                {
                    "name": "groovin",
                    "type": "synonym"
                },
                {
                    "name": "kakapoo",
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                {
                    "name": "kakapo",
                    "type": "synonym"
                },
                {
                    "name": "kopupu",
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                {
                    "name": "short stop, isoform H",
                    "type": "synonym"
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                {
                    "name": "short stop",
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                {
                    "name": "short-stop",
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                {
                    "name": "shortshop",
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                {
                    "name": "shortstop",
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                {
                    "name": "shot-PH",
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                {
                    "name": "spectraplakin",
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            ],
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                    "name": "shot",
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                {
                    "name": "42/4",
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                },
                {
                    "name": "4",
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                    "name": "CG18076",
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                {
                    "name": "CG18637",
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                    "name": "Dmel\\CG18076",
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                {
                    "name": "Dmel_CG18076",
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                {
                    "name": "EN2-12",
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                    "name": "Grv",
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                    "name": "Kak",
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                {
                    "name": "Shot",
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                {
                    "name": "Su(Mir)1",
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                    "name": "grv",
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                {
                    "name": "kakapo",
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                    "name": "kakp",
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                    "name": "kak",
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                    "name": "kop",
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                    "name": "l(2)CA4",
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                    "name": "l(2)k03010",
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                {
                    "name": "l(2)k04204",
                    "type": "synonym"
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                    "name": "l(2)k05434",
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                    "name": "l(2)k05821",
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                {
                    "name": "l(2)k10821",
                    "type": "synonym"
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                {
                    "name": "l(2)k15606",
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                {
                    "name": "shortstop/kakapo",
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                    "name": "shot",
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                    "id": "0070151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070151"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070151"
}