{
    "disease_id": "DOID:0111072",
    "recommended_name": {
        "id": "DOID:0111072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111072",
        "name": "myostatin-related muscle hypertrophy",
        "description": "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111072",
            "name": "MSLHP",
            "description": ""
        },
        {
            "id": "MONDO:0013598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013598",
            "name": "myostatin-related muscle hypertrophy",
            "description": "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance."
        },
        {
            "id": "MONDO:0013598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013598",
            "name": "MSLHP",
            "description": ""
        },
        {
            "id": "MONDO:0013598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013598",
            "name": "muscle hypertrophy",
            "description": ""
        },
        {
            "id": "MIM:614160",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614160",
            "name": "Muscle hypertrophy",
            "description": "Muscle hypertrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111072"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111072",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111072",
            "categories": []
        },
        {
            "id": "MONDO:0013598",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013598",
            "categories": []
        },
        {
            "id": "MIM:614160",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614160",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O42222-1",
            "uniprot_ac": "O42222",
            "uniprot_id": "GDF8_DANRE",
            "refseq_ac": "NP_571094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 8",
                    "type": "recommended"
                },
                {
                    "name": "GDF-8",
                    "type": "synonym"
                },
                {
                    "name": "Myostatin-1",
                    "type": "synonym"
                },
                {
                    "name": "Myostatin-B",
                    "type": "synonym"
                },
                {
                    "name": "Myostatin",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8",
                    "type": "synonym"
                },
                {
                    "name": "myostatin-1",
                    "type": "synonym"
                },
                {
                    "name": "myostatin-B",
                    "type": "synonym"
                },
                {
                    "name": "zfMSTN-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mstnb",
                    "type": "recommended"
                },
                {
                    "name": "gdf8",
                    "type": "synonym"
                },
                {
                    "name": "mstn-1",
                    "type": "synonym"
                },
                {
                    "name": "mstnb",
                    "type": "synonym"
                },
                {
                    "name": "mstn",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-3o3.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109749",
                    "type": "synonym"
                }
            ],
            "record_id": "O42222-1",
            "evidence": [
                {
                    "id": "0111072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08689-1",
            "uniprot_ac": "O08689",
            "uniprot_id": "GDF8_MOUSE",
            "refseq_ac": "NP_034964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 8",
                    "type": "recommended"
                },
                {
                    "name": "GDF-8",
                    "type": "synonym"
                },
                {
                    "name": "Myostatin",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mstn",
                    "type": "recommended"
                },
                {
                    "name": "Cmpt",
                    "type": "synonym"
                },
                {
                    "name": "Gdf8",
                    "type": "synonym"
                },
                {
                    "name": "Mstn",
                    "type": "synonym"
                }
            ],
            "record_id": "O08689-1",
            "evidence": [
                {
                    "id": "0111072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14793-1",
            "uniprot_ac": "O14793",
            "uniprot_id": "GDF8_HUMAN",
            "refseq_ac": "NP_005250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 8",
                    "type": "recommended"
                },
                {
                    "name": "GDF-8",
                    "type": "synonym"
                },
                {
                    "name": "Myostatin",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8",
                    "type": "synonym"
                },
                {
                    "name": "myostatin-b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSTN",
                    "type": "recommended"
                },
                {
                    "name": "GDF8",
                    "type": "synonym"
                },
                {
                    "name": "MSLHP",
                    "type": "synonym"
                },
                {
                    "name": "MSTN",
                    "type": "synonym"
                }
            ],
            "record_id": "O14793-1",
            "evidence": [
                {
                    "id": "614160",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614160"
                },
                {
                    "id": "0111072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35312-1",
            "uniprot_ac": "O35312",
            "uniprot_id": "GDF8_RAT",
            "refseq_ac": "NP_062024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 8",
                    "type": "recommended"
                },
                {
                    "name": "GDF-8",
                    "type": "synonym"
                },
                {
                    "name": "Myostatin",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8 precursor",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mstn",
                    "type": "recommended"
                },
                {
                    "name": "Gdf8",
                    "type": "synonym"
                },
                {
                    "name": "Mstn",
                    "type": "synonym"
                }
            ],
            "record_id": "O35312-1",
            "evidence": [
                {
                    "id": "0111072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4F4-1",
            "uniprot_ac": "Q9V4F4",
            "uniprot_id": "Q9V4F4_DROME",
            "refseq_ac": "NP_726604",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1838-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmMyoglianin",
                    "type": "synonym"
                },
                {
                    "name": "Myoglianin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Myoglianin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Myoglianin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "myo-PA",
                    "type": "synonym"
                },
                {
                    "name": "myoglianin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "myoglianine",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD02307",
                    "type": "synonym"
                },
                {
                    "name": "CG1838",
                    "type": "synonym"
                },
                {
                    "name": "DmMyo",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1838",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1838",
                    "type": "synonym"
                },
                {
                    "name": "MYO",
                    "type": "synonym"
                },
                {
                    "name": "Myoglianin",
                    "type": "synonym"
                },
                {
                    "name": "Myo",
                    "type": "synonym"
                },
                {
                    "name": "myg",
                    "type": "synonym"
                },
                {
                    "name": "myoglianin",
                    "type": "synonym"
                },
                {
                    "name": "myo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4F4-1",
            "evidence": [
                {
                    "id": "0111072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111072"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00716-1",
            "uniprot_ac": "O00716",
            "uniprot_id": "E2F3_HUMAN",
            "refseq_ac": "NP_001230005",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor E2F3",
                    "type": "recommended"
                },
                {
                    "name": "E2F-3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2F3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2F3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "E2F3",
                    "type": "recommended"
                },
                {
                    "name": "E2F-3",
                    "type": "synonym"
                },
                {
                    "name": "E2F3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0075",
                    "type": "synonym"
                }
            ],
            "record_id": "O00716-1",
            "evidence": [
                {
                    "id": "0111072",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111072"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111072"
}