{
    "disease_id": "DOID:0111379",
    "recommended_name": {
        "id": "DOID:0111379",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111379",
        "name": "fetal akinesia deformation sequence syndrome 4",
        "description": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111379",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111379",
            "name": "FADS4",
            "description": ""
        },
        {
            "id": "MONDO:0100104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100104",
            "name": "fetal akinesia deformation sequence 4",
            "description": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene."
        },
        {
            "id": "MONDO:0100104",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100104",
            "name": "FADS4",
            "description": ""
        },
        {
            "id": "MIM:618393",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618393",
            "name": "Fetal akinesia deformation sequence 4",
            "description": "Fetal akinesia deformation sequence 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111379"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111379",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111379",
            "categories": []
        },
        {
            "id": "MONDO:0100104",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100104",
            "categories": []
        },
        {
            "id": "MIM:618393",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618393",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2CEI4-1",
            "uniprot_ac": "A2CEI4",
            "uniprot_id": "NUP88_DANRE",
            "refseq_ac": "NP_001018302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin 88",
                    "type": "recommended"
                },
                {
                    "name": "nuclear pore complex protein Nup88",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 88",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nup88",
                    "type": "recommended"
                },
                {
                    "name": "ik:tdsubc_2f7",
                    "type": "synonym"
                },
                {
                    "name": "nup88",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb16f10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb33e09",
                    "type": "synonym"
                },
                {
                    "name": "xx:tdsubc_2f7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112439",
                    "type": "synonym"
                }
            ],
            "record_id": "A2CEI4-1",
            "evidence": [
                {
                    "id": "0111379",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111379"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CEC0-1",
            "uniprot_ac": "Q8CEC0",
            "uniprot_id": "NUP88_MOUSE",
            "refseq_ac": "NP_001076800",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup88",
                    "type": "recommended"
                },
                {
                    "name": "88 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup88",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup88 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup88",
                    "type": "synonym"
                },
                {
                    "name": "preimplantation protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup88",
                    "type": "recommended"
                },
                {
                    "name": "Nup84",
                    "type": "synonym"
                },
                {
                    "name": "Nup88",
                    "type": "synonym"
                },
                {
                    "name": "Prei2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CEC0-1",
            "evidence": [
                {
                    "id": "0111379",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111379"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99567-1",
            "uniprot_ac": "Q99567",
            "uniprot_id": "NUP88_HUMAN",
            "refseq_ac": "NP_001307582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup88",
                    "type": "recommended"
                },
                {
                    "name": "88 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup88",
                    "type": "synonym"
                },
                {
                    "name": "karyoporin",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein 88",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup88 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup88",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 88kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup88",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP88",
                    "type": "recommended"
                },
                {
                    "name": "FADS4",
                    "type": "synonym"
                },
                {
                    "name": "NUP88",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99567-1",
            "evidence": [
                {
                    "id": "618393",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618393"
                },
                {
                    "id": "0111379",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111379"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40368-1",
            "uniprot_ac": "P40368",
            "uniprot_id": "NUP82_YEAST",
            "refseq_ac": "NP_012474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin NUP82",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein NUP82",
                    "type": "synonym"
                },
                {
                    "name": "linker nucleoporin NUP82",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP82",
                    "type": "recommended"
                },
                {
                    "name": "HRB187",
                    "type": "synonym"
                },
                {
                    "name": "J1135",
                    "type": "synonym"
                },
                {
                    "name": "NUP82",
                    "type": "synonym"
                }
            ],
            "record_id": "P40368-1",
            "evidence": [
                {
                    "id": "0111379",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111379"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08658-1",
            "uniprot_ac": "O08658",
            "uniprot_id": "NUP88_RAT",
            "refseq_ac": "NP_446068",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup88",
                    "type": "recommended"
                },
                {
                    "name": "88 kDa nuclear pore complex protein",
                    "type": "synonym"
                },
                {
                    "name": "88 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup84",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup88",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup88",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 88kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup84",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup88",
                    "type": "synonym"
                },
                {
                    "name": "preimplantation protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup88",
                    "type": "recommended"
                },
                {
                    "name": "Nup84",
                    "type": "synonym"
                },
                {
                    "name": "Nup88",
                    "type": "synonym"
                },
                {
                    "name": "Prei2",
                    "type": "synonym"
                }
            ],
            "record_id": "O08658-1",
            "evidence": [
                {
                    "id": "0111379",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111379"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GYU8-1",
            "uniprot_ac": "Q9GYU8",
            "uniprot_id": "NUP88_DROME",
            "refseq_ac": "NP_524330",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup88",
                    "type": "recommended"
                },
                {
                    "name": "88 kDa nuclear pore complex protein",
                    "type": "synonym"
                },
                {
                    "name": "CG6819-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup88",
                    "type": "synonym"
                },
                {
                    "name": "Protein members only",
                    "type": "synonym"
                },
                {
                    "name": "dNup88",
                    "type": "synonym"
                },
                {
                    "name": "mbo-PA",
                    "type": "synonym"
                },
                {
                    "name": "members only",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mbo",
                    "type": "recommended"
                },
                {
                    "name": "1465/07",
                    "type": "synonym"
                },
                {
                    "name": "1465/7",
                    "type": "synonym"
                },
                {
                    "name": "CG6819",
                    "type": "synonym"
                },
                {
                    "name": "DNup88",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6819",
                    "type": "synonym"
                },
                {
                    "name": "Dnup 88",
                    "type": "synonym"
                },
                {
                    "name": "Dnup88",
                    "type": "synonym"
                },
                {
                    "name": "MBO",
                    "type": "synonym"
                },
                {
                    "name": "Mbo",
                    "type": "synonym"
                },
                {
                    "name": "NUP88",
                    "type": "synonym"
                },
                {
                    "name": "Nup88",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.263",
                    "type": "synonym"
                },
                {
                    "name": "dNup88",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05043",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S146507",
                    "type": "synonym"
                },
                {
                    "name": "mbo",
                    "type": "synonym"
                },
                {
                    "name": "nup88",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GYU8-1",
            "evidence": [
                {
                    "id": "0111379",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111379"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111379"
}