{
    "disease_id": "DOID:0110595",
    "recommended_name": {
        "id": "DOID:0110595",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110595",
        "name": "Stromme syndrome",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110595",
            "name": "apple peel syndrome with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110595",
            "name": "CILD31",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110595",
            "name": "jejunal atresia with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110595",
            "name": "primary ciliary dyskinesia 31",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110595",
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "CILD31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple peel syndrome with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, type 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
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            "name": "jejunal atresia-microcephaly-ocular anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "STROMS",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "CILD31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple peel syndrome with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, type 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia-microcephaly-ocular anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "STROMS",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31, formerly",
            "description": ""
        },
        {
            "id": "MIM:243605",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243605",
            "name": "Stromme syndrome",
            "description": "Stromme syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110595"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110595",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110595",
            "categories": []
        },
        {
            "id": "MONDO:0009477",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "categories": []
        },
        {
            "id": "MIM:243605",
            "database": "MIM",
            "url": "https://www.omim.org/entry/243605",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PZT6-1",
            "uniprot_ac": "A0A8M1PZT6",
            "uniprot_id": "A0A8M1PZT6_DANRE",
            "refseq_ac": "XP_001344603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein si:dkeyp-115e12.6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein si:dkeyp-115e12.6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkeyp-115e12.6",
                    "type": "recommended"
                },
                {
                    "name": "si:dkeyp-115e12.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PZT6-1",
            "evidence": [
                {
                    "id": "0110595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q7X5-1",
            "uniprot_ac": "F1Q7X5",
            "uniprot_id": "F1Q7X5_DANRE",
            "refseq_ac": "XP_002665261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein F isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein F isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cenpf",
                    "type": "recommended"
                },
                {
                    "name": "cenpf",
                    "type": "synonym"
                }
            ],
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                    "id": "0110595",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110595"
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            ]
        },
        {
            "uniprot_canonical_ac": "E9Q3P4-1",
            "uniprot_ac": "E9Q3P4",
            "uniprot_id": "E9Q3P4_MOUSE",
            "refseq_ac": "NP_001074832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein F",
                    "type": "synonym"
                },
                {
                    "name": "centromere autoantigen F",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein F",
                    "type": "synonym"
                },
                {
                    "name": "leucine, glutamic acid, lysine family 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenpf",
                    "type": "recommended"
                },
                {
                    "name": "6530404A22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CENF",
                    "type": "synonym"
                },
                {
                    "name": "Cenpf",
                    "type": "synonym"
                },
                {
                    "name": "Lek1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1779",
                    "type": "synonym"
                },
                {
                    "name": "mitosin",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q3P4-1",
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                {
                    "id": "0110595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49454-1",
            "uniprot_ac": "P49454",
            "uniprot_id": "CENPF_HUMAN",
            "refseq_ac": "NP_057427",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein F",
                    "type": "recommended"
                },
                {
                    "name": "AH antigen",
                    "type": "synonym"
                },
                {
                    "name": "CENP-F kinetochore protein",
                    "type": "synonym"
                },
                {
                    "name": "CENP-F",
                    "type": "synonym"
                },
                {
                    "name": "Kinetochore protein CENPF",
                    "type": "synonym"
                },
                {
                    "name": "Mitosin",
                    "type": "synonym"
                },
                {
                    "name": "cell-cycle-dependent 350K nuclear protein",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein F, 350/400kDa",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein F",
                    "type": "synonym"
                },
                {
                    "name": "kinetochore protein CENPF",
                    "type": "synonym"
                },
                {
                    "name": "mitosin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CENPF",
                    "type": "recommended"
                },
                {
                    "name": "CENF",
                    "type": "synonym"
                },
                {
                    "name": "CENPF",
                    "type": "synonym"
                },
                {
                    "name": "CILD31",
                    "type": "synonym"
                },
                {
                    "name": "PRO1779",
                    "type": "synonym"
                },
                {
                    "name": "STROMS",
                    "type": "synonym"
                },
                {
                    "name": "hcp-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49454-1",
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                    "id": "243605",
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                    "url": "https://www.omim.org/entry/243605"
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                {
                    "id": "0110595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PT83-1",
            "uniprot_ac": "E9PT83",
            "uniprot_id": "E9PT83_RAT",
            "refseq_ac": "XP_038946326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein F",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein F isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenpf",
                    "type": "recommended"
                },
                {
                    "name": "Cenpf",
                    "type": "synonym"
                },
                {
                    "name": "Lek1",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PT83-1",
            "evidence": [
                {
                    "id": "0110595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110595"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110595"
}