{
    "disease_id": "DOID:0111376",
    "recommended_name": {
        "id": "DOID:0111376",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111376",
        "name": "fetal akinesia deformation sequence syndrome 3",
        "description": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111376",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111376",
            "name": "FADS3",
            "description": ""
        },
        {
            "id": "MONDO:0100103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100103",
            "name": "fetal akinesia deformation sequence 3",
            "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene."
        },
        {
            "id": "MONDO:0100103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100103",
            "name": "FADS3",
            "description": ""
        },
        {
            "id": "MIM:618389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618389",
            "name": "Fetal akinesia deformation sequence 3",
            "description": "Fetal akinesia deformation sequence 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111376"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111376",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111376",
            "categories": []
        },
        {
            "id": "MONDO:0100103",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100103",
            "categories": []
        },
        {
            "id": "MIM:618389",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618389",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7T6Y5-1",
            "uniprot_ac": "A0A8N7T6Y5",
            "uniprot_id": "A0A8N7T6Y5_DANRE",
            "refseq_ac": "XP_686127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Dok-7 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein Dok-7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dok7b",
                    "type": "recommended"
                },
                {
                    "name": "dok7b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T6Y5-1",
            "evidence": [
                {
                    "id": "0111376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q18PE0-1",
            "uniprot_ac": "Q18PE0",
            "uniprot_id": "DOK7_MOUSE",
            "refseq_ac": "NP_001335203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Dok-7",
                    "type": "recommended"
                },
                {
                    "name": "Downstream of tyrosine kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "downstream of tyrosine kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "oncoprotein induced transcript 5",
                    "type": "synonym"
                },
                {
                    "name": "protein Dok-7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Dok-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dok7",
                    "type": "recommended"
                },
                {
                    "name": "A930013K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dok-7",
                    "type": "synonym"
                },
                {
                    "name": "Dok7",
                    "type": "synonym"
                },
                {
                    "name": "EF-12",
                    "type": "synonym"
                },
                {
                    "name": "Oit5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q18PE0-1",
            "evidence": [
                {
                    "id": "0111376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q18PE1-1",
            "uniprot_ac": "Q18PE1",
            "uniprot_id": "DOK7_HUMAN",
            "refseq_ac": "NP_001158145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Dok-7",
                    "type": "recommended"
                },
                {
                    "name": "Downstream of tyrosine kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "downstream of tyrosine kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "protein Dok-7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Dok-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOK7",
                    "type": "recommended"
                },
                {
                    "name": "C4orf25",
                    "type": "synonym"
                },
                {
                    "name": "CMS10",
                    "type": "synonym"
                },
                {
                    "name": "CMS1B",
                    "type": "synonym"
                },
                {
                    "name": "DOK7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q18PE1-1",
            "evidence": [
                {
                    "id": "618389",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618389"
                },
                {
                    "id": "0111376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111376"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDW9-1",
            "uniprot_ac": "D3ZDW9",
            "uniprot_id": "D3ZDW9_RAT",
            "refseq_ac": "XP_017454694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Docking protein 7",
                    "type": "synonym"
                },
                {
                    "name": "protein Dok-7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dok7",
                    "type": "recommended"
                },
                {
                    "name": "Dok7",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566416",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDW9-1",
            "evidence": [
                {
                    "id": "0111376",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111376"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111376"
}