{
    "disease_id": "DOID:0080020",
    "recommended_name": {
        "id": "DOID:0080020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080020",
        "name": "Jansen's metaphyseal chondrodysplasia",
        "description": "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism."
    },
    "synonyms": [
        {
            "id": "DOID:0080020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080020",
            "name": "Jansen Disease",
            "description": ""
        },
        {
            "id": "DOID:0080020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080020",
            "name": "Jansen Metaphyseal Dysostosis",
            "description": ""
        },
        {
            "id": "DOID:0080020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080020",
            "name": "Jansen metaphyseal chondrodysplasia",
            "description": ""
        },
        {
            "id": "DOID:0080020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080020",
            "name": "Murk Jansen Type Metaphyseal Chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "metaphyseal chondrodysplasia, Jansen type",
            "description": "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia."
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "Jansen Type Metaphyseal Chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "Jansen type metaphyseal chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "metaphyseal chondrodysplasia murk Jansen type",
            "description": ""
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "metaphyseal chondrodysplasia, Jansen type",
            "description": ""
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "metaphyseal chondrodysplasia, murk Jansen type",
            "description": ""
        },
        {
            "id": "MONDO:0007982",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "name": "murk Jansen type metaphyseal chondrodysplasia",
            "description": ""
        },
        {
            "id": "MIM:156400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156400",
            "name": "Metaphyseal chondrodysplasia, Jansen type",
            "description": "Metaphyseal chondrodysplasia, Jansen type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080020",
            "categories": []
        },
        {
            "id": "MONDO:0007982",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007982",
            "categories": []
        },
        {
            "id": "MIM:156400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/156400",
            "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": "0080020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080020"
                }
            ]
        },
        {
            "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": "156400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/156400"
                },
                {
                    "id": "0080020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080020"
                }
            ]
        },
        {
            "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": "0080020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080020"
}