{
    "disease_id": "DOID:0061132",
    "recommended_name": {
        "id": "DOID:0061132",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061132",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 23",
        "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061132",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061132",
            "name": "LGMDR23",
            "description": ""
        },
        {
            "id": "MONDO:0029136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029136",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 23",
            "description": ""
        },
        {
            "id": "MONDO:0029136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029136",
            "name": "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23",
            "description": ""
        },
        {
            "id": "MONDO:0029136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029136",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 23",
            "description": ""
        },
        {
            "id": "MONDO:0029136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029136",
            "name": "LGMDR23",
            "description": ""
        },
        {
            "id": "MIM:618138",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618138",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 23",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061132"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061132",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061132",
            "categories": []
        },
        {
            "id": "MONDO:0029136",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029136",
            "categories": []
        },
        {
            "id": "MIM:618138",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618138",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24043-1",
            "uniprot_ac": "P24043",
            "uniprot_id": "LAMA2_HUMAN",
            "refseq_ac": "NP_000417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit alpha-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Laminin M chain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-12 subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-2 subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Merosin heavy chain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-2 isoform a precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "merosin heavy chain; laminin M chain; laminin-2 subunit alpha; laminin-4 subunit alpha; laminin-12 subunit alpha; laminin, alpha 2; mutant laminin subunit alpha 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMA2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "LAMA2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LAMM; MDC1A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LAMM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "618138",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061132"
}