{
    "disease_id": "DOID:0061133",
    "recommended_name": {
        "id": "DOID:0061133",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061133",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 27",
        "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0061133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061133",
            "name": "LGMDR27",
            "description": ""
        },
        {
            "id": "MONDO:0030456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030456",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 27",
            "description": ""
        },
        {
            "id": "MONDO:0030456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030456",
            "name": "LGMDR27",
            "description": ""
        },
        {
            "id": "MIM:619566",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619566",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 27",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061133"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061133",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061133",
            "categories": []
        },
        {
            "id": "MONDO:0030456",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030456",
            "categories": []
        },
        {
            "id": "MIM:619566",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619566",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TDN4-1",
            "uniprot_ac": "A0A8N7TDN4",
            "uniprot_id": "A0A8N7TDN4_DANRE",
            "refseq_ac": "XP_694817",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-like protein",
                    "type": "recommended"
                },
                {
                    "name": "protein jagged-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jag2a",
                    "type": "recommended"
                },
                {
                    "name": "jag2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TDN4-1",
            "evidence": [
                {
                    "id": "0061133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYE5-1",
            "uniprot_ac": "Q9QYE5",
            "uniprot_id": "JAG2_MOUSE",
            "refseq_ac": "NP_034718",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagged-2",
                    "type": "recommended"
                },
                {
                    "name": "Jagged2",
                    "type": "synonym"
                },
                {
                    "name": "protein jagged-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein jagged-2",
                    "type": "synonym"
                },
                {
                    "name": "syndactylism",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jag2",
                    "type": "recommended"
                },
                {
                    "name": "D12Ggc2e",
                    "type": "synonym"
                },
                {
                    "name": "Jag2",
                    "type": "synonym"
                },
                {
                    "name": "Serh",
                    "type": "synonym"
                },
                {
                    "name": "mJagged2-1",
                    "type": "synonym"
                },
                {
                    "name": "sm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYE5-1",
            "evidence": [
                {
                    "id": "0061133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y219-1",
            "uniprot_ac": "Q9Y219",
            "uniprot_id": "JAG2_HUMAN",
            "refseq_ac": "NP_002217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagged-2",
                    "type": "recommended"
                },
                {
                    "name": "Jagged2",
                    "type": "synonym"
                },
                {
                    "name": "hJ2",
                    "type": "synonym"
                },
                {
                    "name": "jagged 2",
                    "type": "synonym"
                },
                {
                    "name": "jagged-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "protein jagged-2 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein jagged-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JAG2",
                    "type": "recommended"
                },
                {
                    "name": "HJ2",
                    "type": "synonym"
                },
                {
                    "name": "JAG2",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR27",
                    "type": "synonym"
                },
                {
                    "name": "SER2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y219-1",
            "evidence": [
                {
                    "id": "619566",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619566"
                },
                {
                    "id": "0061133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97607-1",
            "uniprot_ac": "P97607",
            "uniprot_id": "JAG2_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": "Protein jagged-2",
                    "type": "recommended"
                },
                {
                    "name": "Jagged2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jag2",
                    "type": "recommended"
                }
            ],
            "record_id": "P97607-1",
            "evidence": [
                {
                    "id": "0061133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18168-1",
            "uniprot_ac": "P18168",
            "uniprot_id": "SERR_DROME",
            "refseq_ac": "NP_001287558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein serrate",
                    "type": "recommended"
                },
                {
                    "name": "CG6127-PB",
                    "type": "synonym"
                },
                {
                    "name": "Delta-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein beaded",
                    "type": "synonym"
                },
                {
                    "name": "Ser-PB",
                    "type": "synonym"
                },
                {
                    "name": "beaded",
                    "type": "synonym"
                },
                {
                    "name": "dmSerrate",
                    "type": "synonym"
                },
                {
                    "name": "ripped wing",
                    "type": "synonym"
                },
                {
                    "name": "serrate, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "serrate",
                    "type": "synonym"
                },
                {
                    "name": "serratoid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ser",
                    "type": "recommended"
                },
                {
                    "name": "Bd",
                    "type": "synonym"
                },
                {
                    "name": "CG6127",
                    "type": "synonym"
                },
                {
                    "name": "CT18858",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6127",
                    "type": "synonym"
                },
                {
                    "name": "Rpw",
                    "type": "synonym"
                },
                {
                    "name": "SER",
                    "type": "synonym"
                },
                {
                    "name": "Ser",
                    "type": "synonym"
                },
                {
                    "name": "mel(3)8",
                    "type": "synonym"
                },
                {
                    "name": "ser",
                    "type": "synonym"
                },
                {
                    "name": "std",
                    "type": "synonym"
                }
            ],
            "record_id": "P18168-1",
            "evidence": [
                {
                    "id": "0061133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TDJ6-1",
            "uniprot_ac": "Q8TDJ6",
            "uniprot_id": "DMXL2_HUMAN",
            "refseq_ac": "NP_001167587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DmX-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Rabconnectin-3",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rabconnectin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMXL2",
                    "type": "recommended"
                },
                {
                    "name": "DEE81",
                    "type": "synonym"
                },
                {
                    "name": "DFNA71",
                    "type": "synonym"
                },
                {
                    "name": "DMXL2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE81",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0856",
                    "type": "synonym"
                },
                {
                    "name": "PEPNS",
                    "type": "synonym"
                },
                {
                    "name": "RC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDJ6-1",
            "evidence": [
                {
                    "id": "0061133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061133"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061133"
}