{
    "disease_id": "DOID:0081400",
    "recommended_name": {
        "id": "DOID:0081400",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081400",
        "name": "autosomal dominant distal hereditary motor neuronopathy 11",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0957875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957875",
            "name": "neuronopathy, distal hereditary motor, autosomal dominant 11",
            "description": ""
        },
        {
            "id": "MIM:620528",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620528",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 11",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081400"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081400",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081400",
            "categories": []
        },
        {
            "id": "MONDO:0957875",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957875",
            "categories": []
        },
        {
            "id": "MIM:620528",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620528",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQF2-1",
            "uniprot_ac": "A0A8M9PQF2",
            "uniprot_id": "A0A8M9PQF2_DANRE",
            "refseq_ac": "XP_021324499",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain, non-erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Fodrin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, non-erythrocytic 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sptan1",
                    "type": "recommended"
                },
                {
                    "name": "im:7157190",
                    "type": "synonym"
                },
                {
                    "name": "spna2",
                    "type": "synonym"
                },
                {
                    "name": "sptan1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa20e05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb33g08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk32a10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112229",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16546-1",
            "uniprot_ac": "P16546",
            "uniprot_id": "SPTN1_MOUSE",
            "refseq_ac": "NP_001356254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain, non-erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Fodrin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-spectrin 2, brain",
                    "type": "synonym"
                },
                {
                    "name": "alphaII-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "fodrin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, brain",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, non-erythrocytic 1 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, non-erythrocytic 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, non-erythroid alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptan1",
                    "type": "recommended"
                },
                {
                    "name": "2610027H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Spna-2",
                    "type": "synonym"
                },
                {
                    "name": "Spna2",
                    "type": "synonym"
                },
                {
                    "name": "Spta2",
                    "type": "synonym"
                },
                {
                    "name": "Sptan1",
                    "type": "synonym"
                }
            ],
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                    "id": "0081400",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13813-1",
            "uniprot_ac": "Q13813",
            "uniprot_id": "SPTN1_HUMAN",
            "refseq_ac": "NP_001123910",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Spectrin alpha chain, non-erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Fodrin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin, non-erythroid alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-fodrin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fodrin alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, non-erythrocytic 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, non-erythrocytic 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, non-erythroid alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, non-erythroid alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTAN1",
                    "type": "recommended"
                },
                {
                    "name": "DEE5",
                    "type": "synonym"
                },
                {
                    "name": "DEVEP",
                    "type": "synonym"
                },
                {
                    "name": "EIEE5",
                    "type": "synonym"
                },
                {
                    "name": "HMN11",
                    "type": "synonym"
                },
                {
                    "name": "HMND11",
                    "type": "synonym"
                },
                {
                    "name": "NEAS",
                    "type": "synonym"
                },
                {
                    "name": "SPG91",
                    "type": "synonym"
                },
                {
                    "name": "SPTA2",
                    "type": "synonym"
                },
                {
                    "name": "SPTAN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13813-1",
            "evidence": [
                {
                    "id": "620528",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620528"
                },
                {
                    "id": "0081400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16086-1",
            "uniprot_ac": "P16086",
            "uniprot_id": "SPTN1_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": "Spectrin alpha chain, non-erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-II spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Fodrin alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gle1",
                    "type": "recommended"
                },
                {
                    "name": "Sptan1",
                    "type": "recommended"
                },
                {
                    "name": "Spna2",
                    "type": "synonym"
                },
                {
                    "name": "Spta2",
                    "type": "synonym"
                },
                {
                    "name": "Sptan1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16086-1",
            "evidence": [
                {
                    "id": "0081400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081400"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13395-1",
            "uniprot_ac": "P13395",
            "uniprot_id": "SPTCA_DROME",
            "refseq_ac": "NP_476739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "CG1977-PA",
                    "type": "synonym"
                },
                {
                    "name": "aSpc 3A9",
                    "type": "synonym"
                },
                {
                    "name": "alpha spectrin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "alpha spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-SPECTRIN",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spec-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-spectrin II",
                    "type": "synonym"
                },
                {
                    "name": "alphaSpectrin",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-2E2",
                    "type": "synonym"
                },
                {
                    "name": "klotzchen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alpha-Spec",
                    "type": "recommended"
                },
                {
                    "name": "3A9",
                    "type": "synonym"
                },
                {
                    "name": "AlphaSpec",
                    "type": "synonym"
                },
                {
                    "name": "CG1977",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1977",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1977",
                    "type": "synonym"
                },
                {
                    "name": "FBtr0072789",
                    "type": "synonym"
                },
                {
                    "name": "FCP-B",
                    "type": "synonym"
                },
                {
                    "name": "SPEC-A",
                    "type": "synonym"
                },
                {
                    "name": "SPTCA",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Spec",
                    "type": "synonym"
                },
                {
                    "name": "Sp",
                    "type": "synonym"
                },
                {
                    "name": "alfa-Spec",
                    "type": "synonym"
                },
                {
                    "name": "alpha pectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-SPEC",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spc",
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                },
                {
                    "name": "alpha-Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spect",
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                {
                    "name": "alpha-Spe",
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                {
                    "name": "alpha-Sp",
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                },
                {
                    "name": "alpha-spectrin",
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                {
                    "name": "alpha-spec",
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                },
                {
                    "name": "alphaSpectrin",
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                },
                {
                    "name": "alphaSpec",
                    "type": "synonym"
                },
                {
                    "name": "alphaSp",
                    "type": "synonym"
                },
                {
                    "name": "alpha",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe2E2",
                    "type": "synonym"
                },
                {
                    "name": "dre3",
                    "type": "synonym"
                },
                {
                    "name": "klo",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04276",
                    "type": "synonym"
                },
                {
                    "name": "l(3)62Bd",
                    "type": "synonym"
                },
                {
                    "name": "l(3)alpha-Spec",
                    "type": "synonym"
                },
                {
                    "name": "l(3)dre3",
                    "type": "synonym"
                },
                {
                    "name": "spectrin",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0081400",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081400"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081400"
}