{
    "disease_id": "DOID:0080681",
    "recommended_name": {
        "id": "DOID:0080681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080681",
        "name": "X-linked chronic idiopathic intestinal pseudo-obstruction",
        "description": "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",
            "description": "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms."
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "congenital short bowel syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "intestinal pseudoobstruction, neuronal, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "CIIP",
            "description": ""
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "CIIP X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "CIIPX",
            "description": ""
        },
        {
            "id": "MONDO:0010232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "name": "intestinal pseudoobstruction neuronal chronic idiopathic X-linked",
            "description": ""
        },
        {
            "id": "MIM:300048",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300048",
            "name": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",
            "description": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080681"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080681",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080681",
            "categories": []
        },
        {
            "id": "MONDO:0010232",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010232",
            "categories": []
        },
        {
            "id": "MIM:300048",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300048",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AYA1-1",
            "uniprot_ac": "A0A8M3AYA1",
            "uniprot_id": "A0A8M3AYA1_DANRE",
            "refseq_ac": "XP_009295045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flna",
                    "type": "recommended"
                },
                {
                    "name": "flna",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AYA1-1",
            "evidence": [
                {
                    "id": "0080681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BTM8-1",
            "uniprot_ac": "Q8BTM8",
            "uniprot_id": "FLNA_MOUSE",
            "refseq_ac": "NP_001390993",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "dilated pupils 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle filamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flna",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Dilp2",
                    "type": "synonym"
                },
                {
                    "name": "F730004A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fln1",
                    "type": "synonym"
                },
                {
                    "name": "Flna",
                    "type": "synonym"
                },
                {
                    "name": "Fln",
                    "type": "synonym"
                },
                {
                    "name": "GENA 379",
                    "type": "synonym"
                },
                {
                    "name": "filamin-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BTM8-1",
            "evidence": [
                {
                    "id": "0080681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21333-1",
            "uniprot_ac": "P21333",
            "uniprot_id": "FLNA_HUMAN",
            "refseq_ac": "NP_001104026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle filamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNA",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "ABPX",
                    "type": "synonym"
                },
                {
                    "name": "CSBS",
                    "type": "synonym"
                },
                {
                    "name": "CVD1",
                    "type": "synonym"
                },
                {
                    "name": "FGS2",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "FLN1",
                    "type": "synonym"
                },
                {
                    "name": "FLNA",
                    "type": "synonym"
                },
                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "FMD",
                    "type": "synonym"
                },
                {
                    "name": "MNS",
                    "type": "synonym"
                },
                {
                    "name": "NHBP",
                    "type": "synonym"
                },
                {
                    "name": "OPD1",
                    "type": "synonym"
                },
                {
                    "name": "OPD2",
                    "type": "synonym"
                },
                {
                    "name": "OPD",
                    "type": "synonym"
                },
                {
                    "name": "XLVD",
                    "type": "synonym"
                },
                {
                    "name": "XMVD",
                    "type": "synonym"
                }
            ],
            "record_id": "P21333-1",
            "evidence": [
                {
                    "id": "300048",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300048"
                },
                {
                    "id": "0080681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZV49-1",
            "uniprot_ac": "A0A8I5ZV49",
            "uniprot_id": "A0A8I5ZV49_RAT",
            "refseq_ac": "NP_001420880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelial actin-binding protein 280)",
                    "type": "synonym"
                },
                {
                    "name": "Filamin A",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "filamin A, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin, alpha",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flna",
                    "type": "recommended"
                },
                {
                    "name": "Flna",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560614",
                    "type": "synonym"
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            ],
            "record_id": "A0A8I5ZV49-1",
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                {
                    "id": "0080681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080681"
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            ]
        },
        {
            "uniprot_canonical_ac": "E9PU79-1",
            "uniprot_ac": "E9PU79",
            "uniprot_id": "E9PU79_RAT",
            "refseq_ac": "NP_062044",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Salivary protein 1",
                    "type": "synonym"
                },
                {
                    "name": "salivary protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spt1",
                    "type": "recommended"
                },
                {
                    "name": "LOC102555445",
                    "type": "synonym"
                },
                {
                    "name": "LOC134479615",
                    "type": "synonym"
                },
                {
                    "name": "Spt1l1",
                    "type": "synonym"
                },
                {
                    "name": "Spt1",
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            ],
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                    "id": "0080681",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEN1-1",
            "uniprot_ac": "Q9VEN1",
            "uniprot_id": "FLNA_DROME",
            "refseq_ac": "NP_001262656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "CG3937-PK",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
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                {
                    "name": "Filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-B",
                    "type": "synonym"
                },
                {
                    "name": "Filamin1",
                    "type": "synonym"
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                {
                    "name": "cheerio, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher-PK",
                    "type": "synonym"
                },
                {
                    "name": "cherrio",
                    "type": "synonym"
                },
                {
                    "name": "filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin isoform B",
                    "type": "synonym"
                },
                {
                    "name": "filamin-240",
                    "type": "synonym"
                },
                {
                    "name": "shi kong",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "cher",
                    "type": "recommended"
                },
                {
                    "name": "CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Cheerio",
                    "type": "synonym"
                },
                {
                    "name": "Cher",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3937",
                    "type": "synonym"
                },
                {
                    "name": "FLN90",
                    "type": "synonym"
                },
                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "Fil",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher",
                    "type": "synonym"
                },
                {
                    "name": "dFil",
                    "type": "synonym"
                },
                {
                    "name": "filamin",
                    "type": "synonym"
                },
                {
                    "name": "joy",
                    "type": "synonym"
                },
                {
                    "name": "sko",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080681"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080681"
}