{
    "disease_id": "DOID:0080845",
    "recommended_name": {
        "id": "DOID:0080845",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080845",
        "name": "omodysplasia 2",
        "description": "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "autosomal dominant omodysplasia",
            "description": "Autosomal dominant form of omodysplasia."
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "omodysplasia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "OMOD2",
            "description": ""
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "omodysplasia 2",
            "description": ""
        },
        {
            "id": "MIM:164745",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164745",
            "name": "Omodysplasia 2",
            "description": "Omodysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080845"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080845",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080845",
            "categories": []
        },
        {
            "id": "MONDO:0008123",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "categories": []
        },
        {
            "id": "MIM:164745",
            "database": "MIM",
            "url": "https://www.omim.org/entry/164745",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JIP6-1",
            "uniprot_ac": "Q9JIP6",
            "uniprot_id": "FZD2_MOUSE",
            "refseq_ac": "NP_065256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-2",
                    "type": "recommended"
                },
                {
                    "name": "Frizzled-10",
                    "type": "synonym"
                },
                {
                    "name": "Fz-10",
                    "type": "synonym"
                },
                {
                    "name": "Fz-2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-10",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-2",
                    "type": "synonym"
                },
                {
                    "name": "fz-10",
                    "type": "synonym"
                },
                {
                    "name": "fz-2",
                    "type": "synonym"
                },
                {
                    "name": "mFz10",
                    "type": "synonym"
                },
                {
                    "name": "mFz2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzd2",
                    "type": "recommended"
                },
                {
                    "name": "Fz10",
                    "type": "synonym"
                },
                {
                    "name": "Fzd10",
                    "type": "synonym"
                },
                {
                    "name": "Fzd2",
                    "type": "synonym"
                },
                {
                    "name": "Mfz10a",
                    "type": "synonym"
                },
                {
                    "name": "Mfz10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIP6-1",
            "evidence": [
                {
                    "id": "0080845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14332-1",
            "uniprot_ac": "Q14332",
            "uniprot_id": "FZD2_HUMAN",
            "refseq_ac": "NP_001457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-2",
                    "type": "recommended"
                },
                {
                    "name": "Fz-2",
                    "type": "synonym"
                },
                {
                    "name": "FzE2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 2, seven transmembrane spanning receptor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled family receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-2",
                    "type": "synonym"
                },
                {
                    "name": "hFz2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FZD2",
                    "type": "recommended"
                },
                {
                    "name": "FZD2",
                    "type": "synonym"
                },
                {
                    "name": "Fz2",
                    "type": "synonym"
                },
                {
                    "name": "OMOD2",
                    "type": "synonym"
                },
                {
                    "name": "fz-2",
                    "type": "synonym"
                },
                {
                    "name": "fzE2",
                    "type": "synonym"
                },
                {
                    "name": "hFz2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14332-1",
            "evidence": [
                {
                    "id": "164745",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/164745"
                },
                {
                    "id": "0080845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08464-1",
            "uniprot_ac": "Q08464",
            "uniprot_id": "FZD2_RAT",
            "refseq_ac": "NP_742032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled-2",
                    "type": "recommended"
                },
                {
                    "name": "Drosophila polarity gene (frizzled) homologue",
                    "type": "synonym"
                },
                {
                    "name": "Drosophila polarity gene homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Fz-2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled family receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-2",
                    "type": "synonym"
                },
                {
                    "name": "fz-2",
                    "type": "synonym"
                },
                {
                    "name": "rFz2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzd2",
                    "type": "recommended"
                },
                {
                    "name": "Fz-10",
                    "type": "synonym"
                },
                {
                    "name": "Fzd10",
                    "type": "synonym"
                },
                {
                    "name": "Fzd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08464-1",
            "evidence": [
                {
                    "id": "0080845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18537-1",
            "uniprot_ac": "P18537",
            "uniprot_id": "FRIZ_DROME",
            "refseq_ac": "NP_524812",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Frizzled",
                    "type": "recommended"
                },
                {
                    "name": "CG17697-PA",
                    "type": "synonym"
                },
                {
                    "name": "Frizzled-1",
                    "type": "synonym"
                },
                {
                    "name": "Frizzled1",
                    "type": "synonym"
                },
                {
                    "name": "dFz1",
                    "type": "synonym"
                },
                {
                    "name": "frizzed",
                    "type": "synonym"
                },
                {
                    "name": "frizzled 1",
                    "type": "synonym"
                },
                {
                    "name": "frizzled, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "frizzled[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "frizzled",
                    "type": "synonym"
                },
                {
                    "name": "fz-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fz",
                    "type": "recommended"
                },
                {
                    "name": "CG17697",
                    "type": "synonym"
                },
                {
                    "name": "CG3646",
                    "type": "synonym"
                },
                {
                    "name": "DFZ1",
                    "type": "synonym"
                },
                {
                    "name": "DFz1",
                    "type": "synonym"
                },
                {
                    "name": "DFz",
                    "type": "synonym"
                },
                {
                    "name": "Dfz1",
                    "type": "synonym"
                },
                {
                    "name": "Dfz",
                    "type": "synonym"
                },
                {
                    "name": "Dm Fz1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17697",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17697",
                    "type": "synonym"
                },
                {
                    "name": "FZ1",
                    "type": "synonym"
                },
                {
                    "name": "FZ",
                    "type": "synonym"
                },
                {
                    "name": "Frizzled",
                    "type": "synonym"
                },
                {
                    "name": "Frz",
                    "type": "synonym"
                },
                {
                    "name": "Fz1",
                    "type": "synonym"
                },
                {
                    "name": "Fzd",
                    "type": "synonym"
                },
                {
                    "name": "Fz",
                    "type": "synonym"
                },
                {
                    "name": "dFz",
                    "type": "synonym"
                },
                {
                    "name": "frz",
                    "type": "synonym"
                },
                {
                    "name": "fz1",
                    "type": "synonym"
                },
                {
                    "name": "fz[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "fz",
                    "type": "synonym"
                }
            ],
            "record_id": "P18537-1",
            "evidence": [
                {
                    "id": "0080845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080845"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080845"
}