{
    "disease_id": "DOID:0080734",
    "recommended_name": {
        "id": "DOID:0080734",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080734",
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type 1",
            "description": "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility."
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS 6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS, kyphoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS, oculoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome kyphoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type 1",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, oculoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "nevo syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS VIA",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome type 6A",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VIA",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VIA, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type Via",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type Via, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS 6 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS VI",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS6A, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDSKSCL1",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome oculoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome type 6 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome type 6A (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliosis type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, ocular-scoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type 6 A",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VI",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kEDS",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kyphoscoliotic EDS",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kyphoscoliotic Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MIM:225400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225400",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1",
            "description": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080734"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080734",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080734",
            "categories": []
        },
        {
            "id": "MONDO:0016002",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "categories": []
        },
        {
            "id": "MIM:225400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q02809-1",
            "uniprot_ac": "Q02809",
            "uniprot_id": "PLOD1_HUMAN",
            "refseq_ac": "NP_000293",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "LH1",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "lysine hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "lysyl hydroxlase 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen lysyl hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLOD1",
                    "type": "recommended"
                },
                {
                    "name": "EDS6",
                    "type": "synonym"
                },
                {
                    "name": "EDSKCL1",
                    "type": "synonym"
                },
                {
                    "name": "LH1",
                    "type": "synonym"
                },
                {
                    "name": "LH",
                    "type": "synonym"
                },
                {
                    "name": "LLH",
                    "type": "synonym"
                },
                {
                    "name": "PLOD1",
                    "type": "synonym"
                },
                {
                    "name": "PLOD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02809-1",
            "evidence": [
                {
                    "id": "5351",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/5351#disease"
                },
                {
                    "id": "0016002",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                },
                {
                    "id": "225400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/225400"
                },
                {
                    "id": "0080734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8WIN7-1",
            "uniprot_ac": "A8WIN7",
            "uniprot_id": "A8WIN7_DANRE",
            "refseq_ac": "NP_001071210",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "lh1",
                    "type": "synonym"
                },
                {
                    "name": "lysine hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "procollagen lysine 2-oxoglutarate 5-dioxygenase 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1a",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plod1a",
                    "type": "recommended"
                },
                {
                    "name": "fc95g08",
                    "type": "synonym"
                },
                {
                    "name": "fi18a05",
                    "type": "synonym"
                },
                {
                    "name": "ik:tdsubs_rzpd609-29b19",
                    "type": "synonym"
                },
                {
                    "name": "plod1a",
                    "type": "synonym"
                },
                {
                    "name": "plod1",
                    "type": "synonym"
                },
                {
                    "name": "plod",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc29c10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc95g08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi18a05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152876",
                    "type": "synonym"
                }
            ],
            "record_id": "A8WIN7-1",
            "evidence": [
                {
                    "id": "0080734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0E2-1",
            "uniprot_ac": "Q9R0E2",
            "uniprot_id": "PLOD1_MOUSE",
            "refseq_ac": "NP_035252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "LH1",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod1",
                    "type": "recommended"
                },
                {
                    "name": "2410042F05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lh1",
                    "type": "synonym"
                },
                {
                    "name": "Plod1",
                    "type": "synonym"
                },
                {
                    "name": "Plod",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0E2-1",
            "evidence": [
                {
                    "id": "0080734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63321-1",
            "uniprot_ac": "Q63321",
            "uniprot_id": "PLOD1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.4",
                    "type": "synonym"
                },
                {
                    "name": "LH1",
                    "type": "synonym"
                },
                {
                    "name": "Lysyl hydroxylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plod1",
                    "type": "recommended"
                },
                {
                    "name": "Plod",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63321-1",
            "evidence": [
                {
                    "id": "0080734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                }
            ]
        },
        {
            "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": "0080734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080734"
}