{
    "disease_id": "DOID:0061197",
    "recommended_name": {
        "id": "DOID:0061197",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061197",
        "name": "BCARD syndrome",
        "description": "A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0012892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012892",
            "name": "bone fragility with contractures, arterial rupture, and deafness",
            "description": "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features."
        },
        {
            "id": "MONDO:0012892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012892",
            "name": "bone fragility with contractures, arterial rupture, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012892",
            "name": "bone fragility-contractures-arterial rupture-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012892",
            "name": "connective tissue disorder due to LH3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012892",
            "name": "connective tissue disorder due to lysyl hydroxylase-3 deficiency",
            "description": ""
        },
        {
            "id": "MIM:612394",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612394",
            "name": "BCARD syndrome",
            "description": "BCARD syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061197"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061197",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061197",
            "categories": []
        },
        {
            "id": "MONDO:0012892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012892",
            "categories": []
        },
        {
            "id": "MIM:612394",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612394",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O60568-1",
            "uniprot_ac": "O60568",
            "uniprot_id": "PLOD3_HUMAN",
            "refseq_ac": "NP_001075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3",
                    "type": "recommended"
                },
                {
                    "name": "Galactosylhydroxylysine-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysine hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxlase 3",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLOD3",
                    "type": "recommended"
                },
                {
                    "name": "BCARD",
                    "type": "synonym"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "PLOD3",
                    "type": "synonym"
                }
            ],
            "record_id": "O60568-1",
            "evidence": [
                {
                    "id": "8985",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/8985#disease"
                },
                {
                    "id": "0012892",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012892"
                },
                {
                    "id": "612394",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612394"
                },
                {
                    "id": "0061197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0E1-1",
            "uniprot_ac": "Q9R0E1",
            "uniprot_id": "PLOD3_MOUSE",
            "refseq_ac": "NP_036092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3",
                    "type": "recommended"
                },
                {
                    "name": "Galactosylhydroxylysine-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod3",
                    "type": "recommended"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "Plod3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0E1-1",
            "evidence": [
                {
                    "id": "0061197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U367-1",
            "uniprot_ac": "Q5U367",
            "uniprot_id": "PLOD3_RAT",
            "refseq_ac": "NP_835202",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3",
                    "type": "recommended"
                },
                {
                    "name": "Galactosylhydroxylysine-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bone protein I (BP-I)",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod3",
                    "type": "recommended"
                },
                {
                    "name": "Plod3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U367-1",
            "evidence": [
                {
                    "id": "0061197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTH0-1",
            "uniprot_ac": "Q9VTH0",
            "uniprot_id": "PLOD_DROME",
            "refseq_ac": "NP_648451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "CG6199-PA",
                    "type": "synonym"
                },
                {
                    "name": "Plod-PA",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen lysyl hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "drosophila plod",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen lysyl hydroxylase, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod",
                    "type": "recommended"
                },
                {
                    "name": "CG6199",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6199",
                    "type": "synonym"
                },
                {
                    "name": "LH3",
                    "type": "synonym"
                },
                {
                    "name": "Plod",
                    "type": "synonym"
                },
                {
                    "name": "RE-H",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:ParkEST325",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.416",
                    "type": "synonym"
                },
                {
                    "name": "dPlod",
                    "type": "synonym"
                },
                {
                    "name": "dplod",
                    "type": "synonym"
                },
                {
                    "name": "plod",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTH0-1",
            "evidence": [
                {
                    "id": "0061197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061197"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061197"
}