{
    "disease_id": "DOID:0081401",
    "recommended_name": {
        "id": "DOID:0081401",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081401",
        "name": "autosomal dominant distal hereditary motor neuronopathy 13",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0030860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030860",
            "name": "neuronopathy, distal hereditary motor, type 5C",
            "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene."
        },
        {
            "id": "MONDO:0030860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030860",
            "name": "DHMN5C",
            "description": ""
        },
        {
            "id": "MONDO:0030860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030860",
            "name": "HMN5C",
            "description": ""
        },
        {
            "id": "MONDO:0030860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030860",
            "name": "neuropathy, distal hereditary motor, type VC",
            "description": ""
        },
        {
            "id": "MONDO:0030860",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030860",
            "name": "spinal muscular atrophy, distal, type 5C",
            "description": ""
        },
        {
            "id": "MIM:619112",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619112",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 13",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081401"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081401",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081401",
            "categories": []
        },
        {
            "id": "MONDO:0030860",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030860",
            "categories": []
        },
        {
            "id": "MIM:619112",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619112",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A935-1",
            "uniprot_ac": "A0AB13A935",
            "uniprot_id": "A0AB13A935_DANRE",
            "refseq_ac": "NP_001410660",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Seipin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "seipin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bscl2",
                    "type": "recommended"
                },
                {
                    "name": "bscl2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123260",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A935-1",
            "evidence": [
                {
                    "id": "0081401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58H682-1",
            "uniprot_ac": "A0AC58H682",
            "uniprot_id": "A0AC58H682_DANRE",
            "refseq_ac": "XP_073777494",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BSCL2 lipid droplet biogenesis associated, seipin, like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bscl2l",
                    "type": "recommended"
                },
                {
                    "name": "bscl2l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110829",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H682-1",
            "evidence": [
                {
                    "id": "0081401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2E9-1",
            "uniprot_ac": "Q9Z2E9",
            "uniprot_id": "BSCL2_MOUSE",
            "refseq_ac": "NP_001129536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "G protein gamma 3 linked",
                    "type": "synonym"
                },
                {
                    "name": "bernardinelli-Seip congenital lipodystrophy type 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "seipin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "seipin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bscl2",
                    "type": "recommended"
                },
                {
                    "name": "2900097C17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bscl2",
                    "type": "synonym"
                },
                {
                    "name": "Gng3lg",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-2630",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2E9-1",
            "evidence": [
                {
                    "id": "0081401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96G97-2",
            "uniprot_ac": "Q96G97",
            "uniprot_id": "BSCL2_HUMAN",
            "refseq_ac": "NP_001116427",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "BSCL2, seipin lipid droplet biogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy type 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "seipin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BSCL2",
                    "type": "recommended"
                },
                {
                    "name": "BSCL2",
                    "type": "synonym"
                },
                {
                    "name": "GNG3LG",
                    "type": "synonym"
                },
                {
                    "name": "HMN5C",
                    "type": "synonym"
                },
                {
                    "name": "HMN5",
                    "type": "synonym"
                },
                {
                    "name": "HMND13",
                    "type": "synonym"
                },
                {
                    "name": "PELD",
                    "type": "synonym"
                },
                {
                    "name": "SPG17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96G97-2",
            "evidence": [
                {
                    "id": "619112",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619112"
                },
                {
                    "id": "0081401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVJ6-1",
            "uniprot_ac": "Q5FVJ6",
            "uniprot_id": "BSCL2_RAT",
            "refseq_ac": "NP_001012171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "BSCL2, seipin lipid droplet biogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "bernardinelli-Seip congenital lipodystrophy type 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "seipin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bscl2",
                    "type": "recommended"
                },
                {
                    "name": "Bscl2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVJ6-1",
            "evidence": [
                {
                    "id": "0081401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3X4-1",
            "uniprot_ac": "Q9V3X4",
            "uniprot_id": "BSCL2_DROME",
            "refseq_ac": "NP_570012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "CG9904-PA",
                    "type": "synonym"
                },
                {
                    "name": "Seipin-PA",
                    "type": "synonym"
                },
                {
                    "name": "dSeipin",
                    "type": "synonym"
                },
                {
                    "name": "seipin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "CG9904",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9904",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR7C10.1",
                    "type": "synonym"
                },
                {
                    "name": "Seipin",
                    "type": "synonym"
                },
                {
                    "name": "dSeipin",
                    "type": "synonym"
                },
                {
                    "name": "dmSeipin",
                    "type": "synonym"
                },
                {
                    "name": "seipin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3X4-1",
            "evidence": [
                {
                    "id": "0081401",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081401"
}