{
    "disease_id": "DOID:0061131",
    "recommended_name": {
        "id": "DOID:0061131",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061131",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 26",
        "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene  on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0061131",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061131",
            "name": "LGMDR26",
            "description": ""
        },
        {
            "id": "MONDO:0030014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030014",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 26",
            "description": ""
        },
        {
            "id": "MONDO:0030014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030014",
            "name": "LGMDR26",
            "description": ""
        },
        {
            "id": "MONDO:0030014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030014",
            "name": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26",
            "description": ""
        },
        {
            "id": "MONDO:0030014",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030014",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 26",
            "description": ""
        },
        {
            "id": "MIM:618848",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618848",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 26",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061131"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061131",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061131",
            "categories": []
        },
        {
            "id": "MONDO:0030014",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030014",
            "categories": []
        },
        {
            "id": "MIM:618848",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618848",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9HBV1-1",
            "uniprot_ac": "Q9HBV1",
            "uniprot_id": "POPD3_HUMAN",
            "refseq_ac": "NP_071756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Popeye domain-containing protein 3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Popeye protein 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "popeye domain-containing protein 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "popeye protein 3; popeye domain containing 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POPDC3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "POP3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "POPDC3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bA355M14.1; LGMDR26; POP3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "618848",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618848"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061131"
}