{
    "disease_id": "DOID:0080735",
    "recommended_name": {
        "id": "DOID:0080735",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080735",
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 2",
        "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
            "description": "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment."
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDS with progressive kyphoscoliosis, myopathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDS with progressive kyphoscoliosis, myopathy, and hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDS, kyphoscoliotic and hearing loss type",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDSKMH",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDSKSCL2",
            "description": ""
        },
        {
            "id": "MIM:614557",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614557",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
            "description": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080735"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080735",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080735",
            "categories": []
        },
        {
            "id": "MONDO:0013800",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "categories": []
        },
        {
            "id": "MIM:614557",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614557",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P59024-1",
            "uniprot_ac": "P59024",
            "uniprot_id": "FKB14_MOUSE",
            "refseq_ac": "NP_705801",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP14",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 14",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-14",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP14",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP14 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP14",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp14",
                    "type": "recommended"
                },
                {
                    "name": "FKBP-14",
                    "type": "synonym"
                },
                {
                    "name": "FKBP22",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp14",
                    "type": "synonym"
                }
            ],
            "record_id": "P59024-1",
            "evidence": [
                {
                    "id": "0080735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWM8-1",
            "uniprot_ac": "Q9NWM8",
            "uniprot_id": "FKB14_HUMAN",
            "refseq_ac": "NP_060416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP14",
                    "type": "recommended"
                },
                {
                    "name": "22 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "22 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 14, 22 kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 14",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-14",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-22",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP14",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP14 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP14",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP14",
                    "type": "recommended"
                },
                {
                    "name": "EDSKMH",
                    "type": "synonym"
                },
                {
                    "name": "EDSKSCL2",
                    "type": "synonym"
                },
                {
                    "name": "FKBP14",
                    "type": "synonym"
                },
                {
                    "name": "FKBP22",
                    "type": "synonym"
                },
                {
                    "name": "IPBP12",
                    "type": "synonym"
                },
                {
                    "name": "PRO381",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWM8-1",
            "evidence": [
                {
                    "id": "614557",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614557"
                },
                {
                    "id": "0080735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NNA7-1",
            "uniprot_ac": "A0ABZ3NNA7",
            "uniprot_id": "A0ABZ3NNA7_RAT",
            "refseq_ac": "XP_017448176",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "peptidylprolyl isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP14 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp14",
                    "type": "recommended"
                },
                {
                    "name": "Fkbp14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABZ3NNA7-1",
            "evidence": [
                {
                    "id": "0080735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K7C5-1",
            "uniprot_ac": "A0A0B4K7C5",
            "uniprot_id": "A0A0B4K7C5_DROME",
            "refseq_ac": "NP_001246448",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "peptidylprolyl isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CG9847-PD",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 14 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 14, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp13",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp14-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp14",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA.GM07659",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH08925",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM07659",
                    "type": "synonym"
                },
                {
                    "name": "CG9847",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9847",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9847",
                    "type": "synonym"
                },
                {
                    "name": "FKB13",
                    "type": "synonym"
                },
                {
                    "name": "FKBP13",
                    "type": "synonym"
                },
                {
                    "name": "FKBP14",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp13",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp14",
                    "type": "synonym"
                },
                {
                    "name": "GM07659",
                    "type": "synonym"
                },
                {
                    "name": "fkbp13",
                    "type": "synonym"
                },
                {
                    "name": "l(2)00734",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K7C5-1",
            "evidence": [
                {
                    "id": "0080735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080735"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080735"
}