{
    "disease_id": "DOID:0070156",
    "recommended_name": {
        "id": "DOID:0070156",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070156",
        "name": "hereditary sensory neuropathy type 1D",
        "description": "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q."
    },
    "synonyms": [
        {
            "id": "DOID:0070156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070156",
            "name": "HSN1D",
            "description": ""
        },
        {
            "id": "DOID:0070156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070156",
            "name": "hereditary sensory and autonomic neuropathy type ID",
            "description": ""
        },
        {
            "id": "DOID:0070156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070156",
            "name": "HSAN1D",
            "description": ""
        },
        {
            "id": "DOID:0070156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070156",
            "name": "hereditary sensory and autonomic neuropathy type 1D",
            "description": ""
        },
        {
            "id": "DOID:0070156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070156",
            "name": "hereditary sensory neuropathy type ID",
            "description": ""
        },
        {
            "id": "MONDO:0013381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013381",
            "name": "neuropathy, hereditary sensory, type 1D",
            "description": "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q."
        },
        {
            "id": "MONDO:0013381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013381",
            "name": "HSN1D",
            "description": ""
        },
        {
            "id": "MONDO:0013381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013381",
            "name": "neuropathy, hereditary sensory, type ID",
            "description": ""
        },
        {
            "id": "MIM:613708",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613708",
            "name": "Neuropathy, hereditary sensory, 1D",
            "description": "Neuropathy, hereditary sensory, 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070156"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070156",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070156",
            "categories": []
        },
        {
            "id": "MONDO:0013381",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013381",
            "categories": []
        },
        {
            "id": "MIM:613708",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613708",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QGX9-1",
            "uniprot_ac": "E9QGX9",
            "uniprot_id": "E9QGX9_DANRE",
            "refseq_ac": "XP_005157066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-1",
                    "type": "recommended"
                },
                {
                    "name": "atlastin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atl1",
                    "type": "recommended"
                },
                {
                    "name": "atl1",
                    "type": "synonym"
                },
                {
                    "name": "fj46c01",
                    "type": "synonym"
                },
                {
                    "name": "spg3a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj46c01",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QGX9-1",
            "evidence": [
                {
                    "id": "0070156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH66-1",
            "uniprot_ac": "Q8BH66",
            "uniprot_id": "ATLA1_MOUSE",
            "refseq_ac": "NP_848743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 3A homolog",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 3A homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atl1",
                    "type": "recommended"
                },
                {
                    "name": "4930435M24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Adfsp",
                    "type": "synonym"
                },
                {
                    "name": "Atl1",
                    "type": "synonym"
                },
                {
                    "name": "Fsp1",
                    "type": "synonym"
                },
                {
                    "name": "Spg3a",
                    "type": "synonym"
                },
                {
                    "name": "Spg3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH66-1",
            "evidence": [
                {
                    "id": "0070156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXF7-1",
            "uniprot_ac": "Q8WXF7",
            "uniprot_id": "ATLA1_HUMAN",
            "refseq_ac": "NP_001121185",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "ATL-1",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GBP-3",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 3 protein A",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-1",
                    "type": "synonym"
                },
                {
                    "name": "hGBP3",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 3 protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATL1",
                    "type": "recommended"
                },
                {
                    "name": "AD-FSP",
                    "type": "synonym"
                },
                {
                    "name": "ATL-1",
                    "type": "synonym"
                },
                {
                    "name": "ATL1",
                    "type": "synonym"
                },
                {
                    "name": "FSP1",
                    "type": "synonym"
                },
                {
                    "name": "GBP3",
                    "type": "synonym"
                },
                {
                    "name": "HSN1D",
                    "type": "synonym"
                },
                {
                    "name": "SPG3A",
                    "type": "synonym"
                },
                {
                    "name": "SPG3",
                    "type": "synonym"
                },
                {
                    "name": "atlastin1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXF7-1",
            "evidence": [
                {
                    "id": "613708",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613708"
                },
                {
                    "id": "0070156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PST4-1",
            "uniprot_ac": "Q6PST4",
            "uniprot_id": "ATLA1_RAT",
            "refseq_ac": "NP_001009831",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 3A homolog",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 3A homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atl1",
                    "type": "recommended"
                },
                {
                    "name": "Atl1",
                    "type": "synonym"
                },
                {
                    "name": "Spg3a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PST4-1",
            "evidence": [
                {
                    "id": "0070156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070156"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC57-1",
            "uniprot_ac": "Q9VC57",
            "uniprot_id": "ATLAS_DROME",
            "refseq_ac": "NP_001287506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6668-PC",
                    "type": "synonym"
                },
                {
                    "name": "D-atlastin",
                    "type": "synonym"
                },
                {
                    "name": "atl-PC",
                    "type": "synonym"
                },
                {
                    "name": "atlastin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "atlastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atl",
                    "type": "recommended"
                },
                {
                    "name": "ATL",
                    "type": "synonym"
                },
                {
                    "name": "Atlastin-1",
                    "type": "synonym"
                },
                {
                    "name": "Atl",
                    "type": "synonym"
                },
                {
                    "name": "CG6668",
                    "type": "synonym"
                },
                {
                    "name": "DATL",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6668",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6668",
                    "type": "synonym"
                },
                {
                    "name": "atl",
                    "type": "synonym"
                },
                {
                    "name": "dAtl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC57-1",
            "evidence": [
                {
                    "id": "0070156",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070156"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070156"
}