{
    "disease_id": "DOID:0080019",
    "recommended_name": {
        "id": "DOID:0080019",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080019",
        "name": "metaphyseal dysplasia",
        "description": "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone."
    },
    "synonyms": [
        {
            "id": "DOID:0080019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080019",
            "name": "Bakwin-Krida syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080019",
            "name": "Pyle's disease",
            "description": ""
        },
        {
            "id": "DOID:0080019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080019",
            "name": "Pyle-Cohn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008971",
            "name": "chondrodysplasia calcificans Metaphysealis",
            "description": ""
        },
        {
            "id": "MONDO:0008971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008971",
            "name": "chondrodysplasia calcificans Metaphysealis",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "Pyle disease",
            "description": "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning."
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "Bakwin-Krida syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "Pyle disease",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "Pyle's disease",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "Pyle's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "Pyle-Cohn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "chondrodysplasia calcificans metaphysealis",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "metaphyseal dysplasia, Pyle type",
            "description": ""
        },
        {
            "id": "MONDO:0009943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "name": "metaphyseal dysplasia Pyle type",
            "description": ""
        },
        {
            "id": "MIM:265900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265900",
            "name": "Pyle disease",
            "description": "Pyle disease"
        }
    ],
    "children": [
        {
            "id": "DOID:0080020",
            "label": "Jansen's metaphyseal chondrodysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080021",
            "label": "Schmid metaphyseal chondrodysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081111",
            "label": "osteosclerotic metaphyseal dysplasia",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080021",
        "DOID:0080020",
        "DOID:0081111",
        "DOID:0080019"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080019",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080019",
            "categories": []
        },
        {
            "id": "MONDO:0008971",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008971",
            "categories": []
        },
        {
            "id": "MONDO:0009943",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009943",
            "categories": []
        },
        {
            "id": "MIM:265900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/265900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z1N6-1",
            "uniprot_ac": "Q9Z1N6",
            "uniprot_id": "SFRP4_MOUSE",
            "refseq_ac": "NP_057896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted frizzled-related sequence protein 4",
                    "type": "recommended"
                },
                {
                    "name": "FRP-4",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-related protein 4",
                    "type": "synonym"
                },
                {
                    "name": "sFRP-4",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related sequence protein 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related sequence protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sfrp4",
                    "type": "recommended"
                },
                {
                    "name": "Sfrp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1N6-1",
            "evidence": [
                {
                    "id": "0080019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6FHJ7-1",
            "uniprot_ac": "Q6FHJ7",
            "uniprot_id": "SFRP4_HUMAN",
            "refseq_ac": "NP_003005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted frizzled-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Frizzled protein, human endometrium",
                    "type": "synonym"
                },
                {
                    "name": "FrpHE",
                    "type": "synonym"
                },
                {
                    "name": "frizzled protein, human endometrium",
                    "type": "synonym"
                },
                {
                    "name": "sFRP-4",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SFRP4",
                    "type": "recommended"
                },
                {
                    "name": "FRP-4",
                    "type": "synonym"
                },
                {
                    "name": "FRPHE",
                    "type": "synonym"
                },
                {
                    "name": "FRZB-2",
                    "type": "synonym"
                },
                {
                    "name": "PYL",
                    "type": "synonym"
                },
                {
                    "name": "SFRP4",
                    "type": "synonym"
                },
                {
                    "name": "sFRP-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6FHJ7-1",
            "evidence": [
                {
                    "id": "265900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/265900"
                },
                {
                    "id": "0080019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLS4-1",
            "uniprot_ac": "Q9JLS4",
            "uniprot_id": "SFRP4_RAT",
            "refseq_ac": "NP_445996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted frizzled-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "DDC-4 protein",
                    "type": "synonym"
                },
                {
                    "name": "FRP",
                    "type": "synonym"
                },
                {
                    "name": "frizzled related protein",
                    "type": "synonym"
                },
                {
                    "name": "sFRP-4",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sfrp4",
                    "type": "recommended"
                },
                {
                    "name": "Ddc4",
                    "type": "synonym"
                },
                {
                    "name": "Frp",
                    "type": "synonym"
                },
                {
                    "name": "Sfrp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLS4-1",
            "evidence": [
                {
                    "id": "0080019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080019"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080019"
}