{
    "disease_id": "DOID:0111732",
    "recommended_name": {
        "id": "DOID:0111732",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111732",
        "name": "Eiken syndrome",
        "description": "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111732",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111732",
            "name": "Eiken skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111732",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111732",
            "name": "bone modeling defect of hands and feet",
            "description": ""
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "Eiken syndrome",
            "description": "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family."
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "Eiken syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "bone modelling defect of hands and feet",
            "description": ""
        },
        {
            "id": "MIM:600002",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600002",
            "name": "Eiken syndrome",
            "description": "Eiken syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111732"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111732",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111732",
            "categories": []
        },
        {
            "id": "MONDO:0010803",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "categories": []
        },
        {
            "id": "MIM:600002",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600002",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41593-1",
            "uniprot_ac": "P41593",
            "uniprot_id": "PTH1R_MOUSE",
            "refseq_ac": "NP_001077404",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone/parathyroid hormone-related peptide receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTH-related peptide receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH/PTHr receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH/PTHrP receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH/PTHrP type I receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related peptide receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related peptide receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pth1r",
                    "type": "recommended"
                },
                {
                    "name": "PPR",
                    "type": "synonym"
                },
                {
                    "name": "Pth1r",
                    "type": "synonym"
                },
                {
                    "name": "Pthr1",
                    "type": "synonym"
                },
                {
                    "name": "Pthr",
                    "type": "synonym"
                }
            ],
            "record_id": "P41593-1",
            "evidence": [
                {
                    "id": "0111732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03431-1",
            "uniprot_ac": "Q03431",
            "uniprot_id": "PTH1R_HUMAN",
            "refseq_ac": "NP_000307",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone/parathyroid hormone-related peptide receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTH/PTHr receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH/PTHrP type I receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related peptide receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related peptide receptor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related protein receptor",
                    "type": "synonym"
                },
                {
                    "name": "seven transmembrane helix receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTH1R",
                    "type": "recommended"
                },
                {
                    "name": "EKNS",
                    "type": "synonym"
                },
                {
                    "name": "PFE",
                    "type": "synonym"
                },
                {
                    "name": "PTH1R",
                    "type": "synonym"
                },
                {
                    "name": "PTHR1",
                    "type": "synonym"
                },
                {
                    "name": "PTHR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03431-1",
            "evidence": [
                {
                    "id": "600002",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600002"
                },
                {
                    "id": "0111732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25961-1",
            "uniprot_ac": "P25961",
            "uniprot_id": "PTH1R_RAT",
            "refseq_ac": "NP_064458",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Parathyroid hormone/parathyroid hormone-related peptide receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTH/PTHr receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH/PTHrP type I receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTH1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid hormone 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related peptide receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid hormone/parathyroid hormone-related peptide receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pth1r",
                    "type": "recommended"
                },
                {
                    "name": "PTHrel",
                    "type": "synonym"
                },
                {
                    "name": "Pth1r",
                    "type": "synonym"
                },
                {
                    "name": "Pthr1",
                    "type": "synonym"
                },
                {
                    "name": "Pthr",
                    "type": "synonym"
                }
            ],
            "record_id": "P25961-1",
            "evidence": [
                {
                    "id": "0111732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111732"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111732"
}