{
    "disease_id": "DOID:0111377",
    "recommended_name": {
        "id": "DOID:0111377",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111377",
        "name": "fetal akinesia deformation sequence syndrome 1",
        "description": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111377",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111377",
            "name": "FADS1",
            "description": ""
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "fetal akinesia deformation sequence 1",
            "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene."
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "FADS1",
            "description": ""
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "Pena-Shokeir syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "name": "Pena-Shokeir syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:208150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208150",
            "name": "Fetal akinesia deformation sequence 1",
            "description": "Fetal akinesia deformation sequence 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111377"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111377",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111377",
            "categories": []
        },
        {
            "id": "MONDO:0100101",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100101",
            "categories": []
        },
        {
            "id": "MIM:208150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61006-1",
            "uniprot_ac": "Q61006",
            "uniprot_id": "MUSK_MOUSE",
            "refseq_ac": "NP_001032205",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle, skeletal receptor tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "MuSK",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific tyrosine-protein kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle localized kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine-protein kinase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific tyrosine-protein kinase receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Musk",
                    "type": "recommended"
                },
                {
                    "name": "Mdk4",
                    "type": "synonym"
                },
                {
                    "name": "Mlk",
                    "type": "synonym"
                },
                {
                    "name": "Musk",
                    "type": "synonym"
                },
                {
                    "name": "Nsk1",
                    "type": "synonym"
                },
                {
                    "name": "Nsk2",
                    "type": "synonym"
                },
                {
                    "name": "Nsk3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61006-1",
            "evidence": [
                {
                    "id": "0111377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15146-1",
            "uniprot_ac": "O15146",
            "uniprot_id": "MUSK_HUMAN",
            "refseq_ac": "NP_001159752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle, skeletal receptor tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "MuSK",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific tyrosine-protein kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine-protein kinase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal, receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific tyrosine-protein kinase receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUSK",
                    "type": "recommended"
                },
                {
                    "name": "CMS9",
                    "type": "synonym"
                },
                {
                    "name": "FADS",
                    "type": "synonym"
                },
                {
                    "name": "MUSK",
                    "type": "synonym"
                }
            ],
            "record_id": "O15146-1",
            "evidence": [
                {
                    "id": "208150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208150"
                },
                {
                    "id": "0111377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62838-1",
            "uniprot_ac": "Q62838",
            "uniprot_id": "MUSK_RAT",
            "refseq_ac": "NP_112323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle, skeletal receptor tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "MuSK",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific tyrosine protein kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific kinase (neural fold/somite kinase 1)",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine protein kinase precursor",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal receptor tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle, skeletal, receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific kinase receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific tyrosine kinase receptor MuSK",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific tyrosine protein kinase receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Musk",
                    "type": "recommended"
                },
                {
                    "name": "Musk",
                    "type": "synonym"
                },
                {
                    "name": "Nsk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62838-1",
            "evidence": [
                {
                    "id": "0111377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V6K3-1",
            "uniprot_ac": "Q9V6K3",
            "uniprot_id": "ROR2_DROME",
            "refseq_ac": "NP_477255",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase transmembrane receptor Ror2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4007-PA",
                    "type": "synonym"
                },
                {
                    "name": "Neurospecific receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Nrk-PA",
                    "type": "synonym"
                },
                {
                    "name": "dRor2",
                    "type": "synonym"
                },
                {
                    "name": "drosophila neurospecific receptor kinase",
                    "type": "synonym"
                },
                {
                    "name": "neuronal receptor kinase",
                    "type": "synonym"
                },
                {
                    "name": "neurospecific receptor kinase",
                    "type": "synonym"
                },
                {
                    "name": "neurospecific receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic receptor kinase",
                    "type": "synonym"
                },
                {
                    "name": "neurotropic receptor kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrk",
                    "type": "recommended"
                },
                {
                    "name": "CG4007",
                    "type": "synonym"
                },
                {
                    "name": "DNRK",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4007",
                    "type": "synonym"
                },
                {
                    "name": "Dnrk",
                    "type": "synonym"
                },
                {
                    "name": "HD-434",
                    "type": "synonym"
                },
                {
                    "name": "Nrk",
                    "type": "synonym"
                },
                {
                    "name": "ROR2",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO2004063362.79",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k14301",
                    "type": "synonym"
                },
                {
                    "name": "nrk",
                    "type": "synonym"
                },
                {
                    "name": "nrtk_dros",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V6K3-1",
            "evidence": [
                {
                    "id": "0111377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29692-1",
            "uniprot_ac": "P29692",
            "uniprot_id": "EF1D_HUMAN",
            "refseq_ac": "NP_001123527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor 1-delta",
                    "type": "recommended"
                },
                {
                    "name": "Antigen NY-CO-4",
                    "type": "synonym"
                },
                {
                    "name": "EF-1-delta",
                    "type": "synonym"
                },
                {
                    "name": "antigen NY-CO-4",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 1-delta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 1-delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EEF1D",
                    "type": "recommended"
                },
                {
                    "name": "EEF1D",
                    "type": "synonym"
                },
                {
                    "name": "EF-1D",
                    "type": "synonym"
                },
                {
                    "name": "EF1D",
                    "type": "synonym"
                },
                {
                    "name": "FP1047",
                    "type": "synonym"
                },
                {
                    "name": "NEDTCHAL",
                    "type": "synonym"
                }
            ],
            "record_id": "P29692-1",
            "evidence": [
                {
                    "id": "0111377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111377"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111377"
}