{
    "disease_id": "DOID:0070154",
    "recommended_name": {
        "id": "DOID:0070154",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070154",
        "name": "hereditary sensory neuropathy type 1F",
        "description": "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070154",
            "name": "HSN1F",
            "description": ""
        },
        {
            "id": "DOID:0070154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070154",
            "name": "hereditary sensory neuropathy type IF",
            "description": ""
        },
        {
            "id": "MONDO:0014286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "name": "neuropathy, hereditary sensory, type 1F",
            "description": "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene."
        },
        {
            "id": "MONDO:0014286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "name": "ATL3 hereditary sensory and autonomic neuropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "name": "HSN1F",
            "description": ""
        },
        {
            "id": "MONDO:0014286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "name": "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3",
            "description": ""
        },
        {
            "id": "MONDO:0014286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "name": "neuropathy, hereditary sensory, type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0014286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "name": "neuropathy, hereditary sensory, type IF",
            "description": ""
        },
        {
            "id": "MIM:615632",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615632",
            "name": "Neuropathy, hereditary sensory, 1F",
            "description": "Neuropathy, hereditary sensory, 1F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070154"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070154",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070154",
            "categories": []
        },
        {
            "id": "MONDO:0014286",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014286",
            "categories": []
        },
        {
            "id": "MIM:615632",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615632",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2CEM4-1",
            "uniprot_ac": "A2CEM4",
            "uniprot_id": "A2CEM4_DANRE",
            "refseq_ac": "NP_001427726",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atl3",
                    "type": "recommended"
                },
                {
                    "name": "atl3",
                    "type": "synonym"
                },
                {
                    "name": "im:6911985",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103512",
                    "type": "synonym"
                }
            ],
            "record_id": "A2CEM4-1",
            "evidence": [
                {
                    "id": "0070154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YH5-1",
            "uniprot_ac": "Q91YH5",
            "uniprot_id": "ATLA3_MOUSE",
            "refseq_ac": "NP_001156977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-3",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "ATL-3",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atl3",
                    "type": "recommended"
                },
                {
                    "name": "4633402C03Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730596K20Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATL-3",
                    "type": "synonym"
                },
                {
                    "name": "Atl3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YH5-1",
            "evidence": [
                {
                    "id": "0070154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DD88-1",
            "uniprot_ac": "Q6DD88",
            "uniprot_id": "ATLA3_HUMAN",
            "refseq_ac": "NP_001276977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-3",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "AT3",
                    "type": "synonym"
                },
                {
                    "name": "ATL-3",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATL3",
                    "type": "recommended"
                },
                {
                    "name": "AT3",
                    "type": "synonym"
                },
                {
                    "name": "ATL-3",
                    "type": "synonym"
                },
                {
                    "name": "ATL3",
                    "type": "synonym"
                },
                {
                    "name": "HSN1F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DD88-1",
            "evidence": [
                {
                    "id": "615632",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615632"
                },
                {
                    "id": "0070154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0ZHH6-1",
            "uniprot_ac": "Q0ZHH6",
            "uniprot_id": "ATLA3_RAT",
            "refseq_ac": "NP_001037706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atlastin-3",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "atlastin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atl3",
                    "type": "recommended"
                },
                {
                    "name": "Atl3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309871",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0ZHH6-1",
            "evidence": [
                {
                    "id": "0070154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070154"
                }
            ]
        },
        {
            "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": "0070154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070154"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070154"
}