{
    "disease_id": "DOID:0060346",
    "recommended_name": {
        "id": "DOID:0060346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060346",
        "name": "congenital myopathy 13",
        "description": "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "name": "Bailey-Bloch congenital myopathy",
            "description": ""
        },
        {
            "id": "DOID:0060346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "name": "Native American myopathy",
            "description": ""
        },
        {
            "id": "DOID:0060346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "name": "STAC3 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "Bailey-Bloch congenital myopathy",
            "description": "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia."
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "Bailey-Bloch congenital myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "Native American myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "STAC3 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "congenital myopathy-cleft palate-malignant hyperthermia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "myopathy, congenital, baily-bloch",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "NAM",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "congenital myopathy - cleft palate - malignant hyperthermia",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "congenital myopathy cleft palate and malignant hyperthermia",
            "description": ""
        },
        {
            "id": "MIM:255995",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255995",
            "name": "Congenital myopathy 13",
            "description": "Congenital myopathy 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060346"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060346",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "categories": []
        },
        {
            "id": "MONDO:0009722",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "categories": []
        },
        {
            "id": "MIM:255995",
            "database": "MIM",
            "url": "https://www.omim.org/entry/255995",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DBR6-1",
            "uniprot_ac": "Q6DBR6",
            "uniprot_id": "STAC3_DANRE",
            "refseq_ac": "NP_001003505",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stac3",
                    "type": "recommended"
                },
                {
                    "name": "stac3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91949",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DBR6-1",
            "evidence": [
                {
                    "id": "0060346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZ71-1",
            "uniprot_ac": "Q8BZ71",
            "uniprot_id": "STAC3_MOUSE",
            "refseq_ac": "NP_808375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stac3",
                    "type": "recommended"
                },
                {
                    "name": "9830125E18",
                    "type": "synonym"
                },
                {
                    "name": "Stac3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZ71-1",
            "evidence": [
                {
                    "id": "0060346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MF2-1",
            "uniprot_ac": "Q96MF2",
            "uniprot_id": "STAC3_HUMAN",
            "refseq_ac": "NP_001273185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAC3",
                    "type": "recommended"
                },
                {
                    "name": "CMYO13",
                    "type": "synonym"
                },
                {
                    "name": "CMYP13",
                    "type": "synonym"
                },
                {
                    "name": "MYPBB",
                    "type": "synonym"
                },
                {
                    "name": "NAM",
                    "type": "synonym"
                },
                {
                    "name": "STAC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MF2-1",
            "evidence": [
                {
                    "id": "255995",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/255995"
                },
                {
                    "id": "0060346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQN6-1",
            "uniprot_ac": "D3ZQN6",
            "uniprot_id": "D3ZQN6_RAT",
            "refseq_ac": "NP_001124030",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and cysteine-rich domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stac3",
                    "type": "recommended"
                },
                {
                    "name": "Stac3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQN6-1",
            "evidence": [
                {
                    "id": "0060346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KEV7-1",
            "uniprot_ac": "A0A0B4KEV7",
            "uniprot_id": "A0A0B4KEV7_DROME",
            "refseq_ac": "NP_001260996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43729-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Stac-like, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "Stacl-PJ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stacl",
                    "type": "recommended"
                },
                {
                    "name": "CG12958",
                    "type": "synonym"
                },
                {
                    "name": "CG12959",
                    "type": "synonym"
                },
                {
                    "name": "CG14163",
                    "type": "synonym"
                },
                {
                    "name": "CG18625",
                    "type": "synonym"
                },
                {
                    "name": "CG30470",
                    "type": "synonym"
                },
                {
                    "name": "CG34318",
                    "type": "synonym"
                },
                {
                    "name": "CG34365",
                    "type": "synonym"
                },
                {
                    "name": "CG43223",
                    "type": "synonym"
                },
                {
                    "name": "CG43729",
                    "type": "synonym"
                },
                {
                    "name": "CG8179",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:47664",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:47672",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43729",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43729",
                    "type": "synonym"
                },
                {
                    "name": "Dstac",
                    "type": "synonym"
                },
                {
                    "name": "Stacl",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_11908",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KEV7-1",
            "evidence": [
                {
                    "id": "0060346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060346"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060346"
}