{
    "disease_id": "DOID:0070348",
    "recommended_name": {
        "id": "DOID:0070348",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070348",
        "name": "spinal muscular atrophy with lower extremity predominant",
        "description": "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles."
    },
    "synonyms": [
        {
            "id": "DOID:0070348",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070348",
            "name": "spinal muscular atrophy with lower extremity predominance",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "SMALED1",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "spinal muscular atrophy, lower extremity-predominant 1, AD",
            "description": ""
        },
        {
            "id": "MONDO:0008026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "name": "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:158600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158600",
            "name": "Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant",
            "description": "Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant"
        }
    ],
    "children": [
        {
            "id": "DOID:0070349",
            "label": "spinal muscular atrophy with lower extremity predominant 2A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070350",
            "label": "spinal muscular atrophy with lower extremity predominant 2B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070351",
            "label": "spinal muscular atrophy with lower extremity predominant 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070351",
        "DOID:0070348",
        "DOID:0070350",
        "DOID:0070349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070348",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070348",
            "categories": []
        },
        {
            "id": "MONDO:0008026",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008026",
            "categories": []
        },
        {
            "id": "MIM:158600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14204-1",
            "uniprot_ac": "Q14204",
            "uniprot_id": "DYHC1_HUMAN",
            "refseq_ac": "NP_001367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 1 heavy chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Cytoplasmic dynein heavy chain 1",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 1 heavy chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "dynein, cytoplasmic, heavy polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYNC1H1",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM13",
                    "type": "synonym"
                },
                {
                    "name": "CMT2O",
                    "type": "synonym"
                },
                {
                    "name": "DHC1a",
                    "type": "synonym"
                },
                {
                    "name": "DHC1",
                    "type": "synonym"
                },
                {
                    "name": "DNCH1",
                    "type": "synonym"
                },
                {
                    "name": "DNCL",
                    "type": "synonym"
                },
                {
                    "name": "DNECL",
                    "type": "synonym"
                },
                {
                    "name": "DYHC",
                    "type": "synonym"
                },
                {
                    "name": "DYNC1H1",
                    "type": "synonym"
                },
                {
                    "name": "Dnchc1",
                    "type": "synonym"
                },
                {
                    "name": "HL-3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0325",
                    "type": "synonym"
                },
                {
                    "name": "SMALED1",
                    "type": "synonym"
                },
                {
                    "name": "p22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14204-1",
            "evidence": [
                {
                    "id": "158600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070348"
}