{
    "disease_id": "DOID:0112192",
    "recommended_name": {
        "id": "DOID:0112192",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112192",
        "name": "tetraamelia syndrome 1",
        "description": "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0112192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112192",
            "name": "TETAMS1",
            "description": ""
        },
        {
            "id": "DOID:0112192",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112192",
            "name": "tetra-amelia syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0060764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060764",
            "name": "tetraamelia syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0060764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060764",
            "name": "tetraamelia syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0060764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060764",
            "name": "TETAMS1",
            "description": ""
        },
        {
            "id": "MIM:273395",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/273395",
            "name": "Tetraamelia syndrome 1",
            "description": "Tetraamelia syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112192"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112192",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112192",
            "categories": []
        },
        {
            "id": "MONDO:0060764",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060764",
            "categories": []
        },
        {
            "id": "MIM:273395",
            "database": "MIM",
            "url": "https://www.omim.org/entry/273395",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P17553-1",
            "uniprot_ac": "P17553",
            "uniprot_id": "WNT3_MOUSE",
            "refseq_ac": "NP_033547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene Wnt-3",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene Int-4",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Int-4",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-3",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene protein Wnt-3",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt3",
                    "type": "recommended"
                },
                {
                    "name": "Int-4",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-3",
                    "type": "synonym"
                },
                {
                    "name": "Wnt3",
                    "type": "synonym"
                }
            ],
            "record_id": "P17553-1",
            "evidence": [
                {
                    "id": "0112192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56703-1",
            "uniprot_ac": "P56703",
            "uniprot_id": "WNT3_HUMAN",
            "refseq_ac": "NP_110380",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene Wnt-3",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene Int-4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WNT-3 proto-oncogene protein",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Int-4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Wnt-3",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNT3",
                    "type": "recommended"
                },
                {
                    "name": "INT4",
                    "type": "synonym"
                },
                {
                    "name": "TETAMS",
                    "type": "synonym"
                },
                {
                    "name": "WNT3",
                    "type": "synonym"
                }
            ],
            "record_id": "P56703-1",
            "evidence": [
                {
                    "id": "273395",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/273395"
                },
                {
                    "id": "0112192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AN69-1",
            "uniprot_ac": "A0A8I6AN69",
            "uniprot_id": "A0A8I6AN69_RAT",
            "refseq_ac": "XP_017452517",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                },
                {
                    "name": "proto-oncogene Wnt-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt3",
                    "type": "recommended"
                },
                {
                    "name": "INT4",
                    "type": "synonym"
                },
                {
                    "name": "Wnt3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AN69-1",
            "evidence": [
                {
                    "id": "0112192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112192"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12841-1",
            "uniprot_ac": "Q12841",
            "uniprot_id": "FSTL1_HUMAN",
            "refseq_ac": "NP_009016",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follistatin-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Follistatin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "follistatin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "follistatin-related protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "follistatin-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FSTL1",
                    "type": "recommended"
                },
                {
                    "name": "FRP",
                    "type": "synonym"
                },
                {
                    "name": "FSL1",
                    "type": "synonym"
                },
                {
                    "name": "FSTL1",
                    "type": "synonym"
                },
                {
                    "name": "OCC-1",
                    "type": "synonym"
                },
                {
                    "name": "OCC1",
                    "type": "synonym"
                },
                {
                    "name": "tsc36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12841-1",
            "evidence": [
                {
                    "id": "0112192",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112192"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112192"
}