{
    "disease_id": "DOID:0070349",
    "recommended_name": {
        "id": "DOID:0070349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070349",
        "name": "spinal muscular atrophy with lower extremity predominant 2A",
        "description": "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070349",
            "name": "spinal muscular atrophy with lower extremity predominance 2A",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "SMALED2",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014121",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "name": "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:615290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615290",
            "name": "Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant",
            "description": "Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070349",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070349",
            "categories": []
        },
        {
            "id": "MONDO:0014121",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014121",
            "categories": []
        },
        {
            "id": "MIM:615290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615290",
            "categories": []
        }
    ],
    "proteins": [
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            "uniprot_ac": "A0AA52Z2I8",
            "uniprot_id": "A0AA52Z2I8_DANRE",
            "refseq_ac": "XP_005155947",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal D homolog 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal D homolog 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bicd2b",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070349"
                }
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            "uniprot_ac": "A0A8N7T6T3",
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            "refseq_ac": "XP_684729",
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                }
            ],
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                    "name": "Protein bicaudal D homolog 1 isoform X1",
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                    "type": "synonym"
                }
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                },
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                }
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            ]
        },
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            "refseq_ac": "NP_001034268",
            "glycoprotein": "yes",
            "species": [
                {
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "Bicd2",
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                },
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                    "type": "synonym"
                },
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                    "name": "Kiaa0699",
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                }
            ],
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                    "id": "0070349",
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        },
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            "uniprot_canonical_ac": "Q8BR07-1",
            "uniprot_ac": "Q8BR07",
            "uniprot_id": "BICD1_MOUSE",
            "refseq_ac": "NP_001106267",
            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal D homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Bic-D 1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal D homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal D homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bicd1",
                    "type": "recommended"
                },
                {
                    "name": "B830009D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bicd1",
                    "type": "synonym"
                },
                {
                    "name": "bic-D 1",
                    "type": "synonym"
                }
            ],
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                    "id": "0070349",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TD16-1",
            "uniprot_ac": "Q8TD16",
            "uniprot_id": "BICD2_HUMAN",
            "refseq_ac": "NP_001003800",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal D homolog 2",
                    "type": "recommended"
                },
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                    "name": "Bic-D 2",
                    "type": "synonym"
                },
                {
                    "name": "bic-D 2",
                    "type": "synonym"
                },
                {
                    "name": "bicaudal D homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil protein BICD2",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton-like bicaudal D protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homolog of Drosophila bicaudal D",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal D homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal D homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "BICD2",
                    "type": "recommended"
                },
                {
                    "name": "BICD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0699",
                    "type": "synonym"
                },
                {
                    "name": "SMALED2A",
                    "type": "synonym"
                },
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                    "name": "SMALED2B",
                    "type": "synonym"
                },
                {
                    "name": "SMALED2",
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                    "name": "bA526D8.1",
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            ],
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                    "id": "615290",
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                    "url": "https://www.omim.org/entry/615290"
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                    "id": "0070349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070349"
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            ]
        },
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            "uniprot_ac": "A0ABK0LEJ2",
            "uniprot_id": "A0ABK0LEJ2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "BICD cargo adaptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bicd2",
                    "type": "recommended"
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            ],
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                    "id": "0070349",
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            "uniprot_canonical_ac": "A0A8I5ZKI9-1",
            "uniprot_ac": "A0A8I5ZKI9",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "BICD cargo adaptor 1",
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            ],
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
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            ],
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                    "name": "Protein bicaudal D",
                    "type": "recommended"
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                    "name": "BicD-PC",
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                    "name": "Bicaudal-D",
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                    "name": "BicaudalD",
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                {
                    "name": "Bicuadal-D",
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                },
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                    "name": "CG6605-PC",
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                    "name": "almond",
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                    "name": "anon-fast-evolving-2A11",
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                    "name": "BicD",
                    "type": "recommended"
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                    "name": "BIC-D",
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                },
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                    "name": "BICD",
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                    "name": "Bic[D]",
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                },
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                    "name": "CG6605",
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                    "name": "Dmel\\CG6605",
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                    "name": "Dmel_CG6605",
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                    "name": "anon-EST:fe2A11",
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                    "id": "0070349",
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            "uniprot_canonical_ac": "Q96G01-1",
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            "species": [
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal D homolog 1",
                    "type": "recommended"
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                    "name": "Bic-D 1",
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                    "name": "bicaudal D homolog 1",
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                },
                {
                    "name": "cytoskeleton-like bicaudal D protein homolog 1",
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                },
                {
                    "name": "protein bicaudal D homolog 1 isoform 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "BICD1",
                    "type": "recommended"
                },
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                    "name": "BICD1",
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                },
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                    "name": "BICD",
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                },
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                    "name": "bic-D 1",
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                }
            ],
            "record_id": "Q96G01-1",
            "evidence": [
                {
                    "id": "0070349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070349"
}