{
    "disease_id": "DOID:0110344",
    "recommended_name": {
        "id": "DOID:0110344",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110344",
        "name": "osteogenesis imperfecta type 5",
        "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110344",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110344",
            "name": "OI5",
            "description": ""
        },
        {
            "id": "DOID:0110344",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110344",
            "name": "osteogenesis imperfecta type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta type 5",
            "description": "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)."
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "IFITM5 osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta caused by mutation in IFITM5",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "OI with calcification in interosseous membranes",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "osteogenesis imperfecta, type V",
            "description": ""
        },
        {
            "id": "MONDO:0012591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "name": "type V OI",
            "description": ""
        },
        {
            "id": "MIM:610967",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610967",
            "name": "Osteogenesis imperfecta 5",
            "description": "Osteogenesis imperfecta 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110344"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110344",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110344",
            "categories": []
        },
        {
            "id": "MONDO:0012591",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012591",
            "categories": []
        },
        {
            "id": "MIM:610967",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610967",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IAV9-1",
            "uniprot_ac": "A0A0R4IAV9",
            "uniprot_id": "A0A0R4IAV9_DANRE",
            "refseq_ac": "XP_005160501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing ossification factor",
                    "type": "recommended"
                },
                {
                    "name": "Membrane protein CH1",
                    "type": "synonym"
                },
                {
                    "name": "SUN domain-containing ossification factor isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "SUN-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "suco",
                    "type": "recommended"
                },
                {
                    "name": "suco",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IAV9-1",
            "evidence": [
                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88728-1",
            "uniprot_ac": "O88728",
            "uniprot_id": "IFM5_MOUSE",
            "refseq_ac": "NP_444318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced transmembrane protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Bone-restricted interferon-induced transmembrane protein-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Bril",
                    "type": "synonym"
                },
                {
                    "name": "DSPA1",
                    "type": "synonym"
                },
                {
                    "name": "Dispanin subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "Fragilis family member 4",
                    "type": "synonym"
                },
                {
                    "name": "bone-restricted interferon induced transmembrane protein-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dispanin subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "fragilis family member 4",
                    "type": "synonym"
                },
                {
                    "name": "haemopoiesis related membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced transmembrane protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifitm5",
                    "type": "recommended"
                },
                {
                    "name": "1110003J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bril",
                    "type": "synonym"
                },
                {
                    "name": "DSPA1",
                    "type": "synonym"
                },
                {
                    "name": "Fragilis4",
                    "type": "synonym"
                },
                {
                    "name": "Hrmp1",
                    "type": "synonym"
                },
                {
                    "name": "Hrtm1",
                    "type": "synonym"
                },
                {
                    "name": "Ifitm5",
                    "type": "synonym"
                }
            ],
            "record_id": "O88728-1",
            "evidence": [
                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C341-1",
            "uniprot_ac": "Q8C341",
            "uniprot_id": "SUCO_MOUSE",
            "refseq_ac": "NP_001344331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing ossification factor",
                    "type": "recommended"
                },
                {
                    "name": "Membrane protein CH1",
                    "type": "synonym"
                },
                {
                    "name": "Protein osteopotentia",
                    "type": "synonym"
                },
                {
                    "name": "SUN domain-containing ossification factor isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SUN-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein CH1",
                    "type": "synonym"
                },
                {
                    "name": "protein C1orf9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein osteopotentia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Suco",
                    "type": "recommended"
                },
                {
                    "name": "4732491B11",
                    "type": "synonym"
                },
                {
                    "name": "Opt",
                    "type": "synonym"
                },
                {
                    "name": "Suco",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C341-1",
            "evidence": [
                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6NNB3-1",
            "uniprot_ac": "A6NNB3",
            "uniprot_id": "IFM5_HUMAN",
            "refseq_ac": "NP_001020466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced transmembrane protein 5",
                    "type": "recommended"
                },
                {
                    "name": "BRIL",
                    "type": "synonym"
                },
                {
                    "name": "Bone-restricted interferon-induced transmembrane protein-like protein",
                    "type": "synonym"
                },
                {
                    "name": "DSPA1",
                    "type": "synonym"
                },
                {
                    "name": "Dispanin subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "bone-restricted ifitm-like protein",
                    "type": "synonym"
                },
                {
                    "name": "bone-restricted interferon-induced transmembrane protein-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dispanin subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced transmembrane protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFITM5",
                    "type": "recommended"
                },
                {
                    "name": "BRIL",
                    "type": "synonym"
                },
                {
                    "name": "DSPA1",
                    "type": "synonym"
                },
                {
                    "name": "Hrmp1",
                    "type": "synonym"
                },
                {
                    "name": "IFITM5",
                    "type": "synonym"
                },
                {
                    "name": "OI5",
                    "type": "synonym"
                },
                {
                    "name": "fragilis4",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NNB3-1",
            "evidence": [
                {
                    "id": "610967",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610967"
                },
                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12232-1",
            "uniprot_ac": "Q12232",
            "uniprot_id": "SLP1_YEAST",
            "refseq_ac": "NP_014797",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein SLP1",
                    "type": "recommended"
                },
                {
                    "name": "SUN-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Slp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLP1",
                    "type": "recommended"
                },
                {
                    "name": "O3545",
                    "type": "synonym"
                },
                {
                    "name": "SLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12232-1",
            "evidence": [
                {
                    "id": "0110344",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7W9-1",
            "uniprot_ac": "G3V7W9",
            "uniprot_id": "G3V7W9_RAT",
            "refseq_ac": "XP_002728878",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon induced transmembrane protein 5",
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                },
                {
                    "name": "interferon-induced transmembrane protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifitm5",
                    "type": "recommended"
                },
                {
                    "name": "Ifitm5",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7W9-1",
            "evidence": [
                {
                    "id": "0110344",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q710E6-1",
            "uniprot_ac": "Q710E6",
            "uniprot_id": "SUCO_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing ossification factor",
                    "type": "recommended"
                },
                {
                    "name": "Membrane protein CH1",
                    "type": "synonym"
                },
                {
                    "name": "Protein osteopotentia homolog",
                    "type": "synonym"
                },
                {
                    "name": "SUN-like protein 1",
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                }
            ],
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                    "name": "Suco",
                    "type": "recommended"
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                {
                    "name": "Dd25",
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                },
                {
                    "name": "Opt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q710E6-1",
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                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIK7-1",
            "uniprot_ac": "Q9VIK7",
            "uniprot_id": "Q9VIK7_DROME",
            "refseq_ac": "NP_724277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31678-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG17465",
                    "type": "recommended"
                },
                {
                    "name": "38D.30",
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                },
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                    "name": "CG17465",
                    "type": "synonym"
                },
                {
                    "name": "CG17466",
                    "type": "synonym"
                },
                {
                    "name": "CG31678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31678",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIK7-1",
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                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBS9-1",
            "uniprot_ac": "Q9UBS9",
            "uniprot_id": "SUCO_HUMAN",
            "refseq_ac": "NP_001269680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing ossification factor",
                    "type": "recommended"
                },
                {
                    "name": "Membrane protein CH1",
                    "type": "synonym"
                },
                {
                    "name": "Protein osteopotentia homolog",
                    "type": "synonym"
                },
                {
                    "name": "SUN domain-containing ossification factor isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "SUN-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein CH1",
                    "type": "synonym"
                },
                {
                    "name": "osteopotentia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUCO",
                    "type": "recommended"
                },
                {
                    "name": "C1orf9",
                    "type": "synonym"
                },
                {
                    "name": "CH1",
                    "type": "synonym"
                },
                {
                    "name": "OPT",
                    "type": "synonym"
                },
                {
                    "name": "SLP1",
                    "type": "synonym"
                },
                {
                    "name": "SUCO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBS9-1",
            "evidence": [
                {
                    "id": "0110344",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110344"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110344"
}