{
    "disease_id": "DOID:0112193",
    "recommended_name": {
        "id": "DOID:0112193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112193",
        "name": "tetraamelia syndrome 2",
        "description": "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112193",
            "name": "TETAMS2",
            "description": ""
        },
        {
            "id": "DOID:0112193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112193",
            "name": "tetra-amelia with pulmonary hypoplasia",
            "description": ""
        },
        {
            "id": "DOID:0112193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112193",
            "name": "tetraamelia with pulmonary hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0060732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060732",
            "name": "tetraamelia syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0060732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060732",
            "name": "tetraamelia syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0060732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060732",
            "name": "TETAMS2",
            "description": ""
        },
        {
            "id": "MIM:618021",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618021",
            "name": "Tetraamelia syndrome 2",
            "description": "Tetraamelia syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112193"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112193",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112193",
            "categories": []
        },
        {
            "id": "MONDO:0060732",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060732",
            "categories": []
        },
        {
            "id": "MIM:618021",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618021",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BFU0-1",
            "uniprot_ac": "Q8BFU0",
            "uniprot_id": "RSPO2_MOUSE",
            "refseq_ac": "NP_766403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "R-spondin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cristin-2",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-rich and single thrombospondin domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Roof plate-specific spondin-2",
                    "type": "synonym"
                },
                {
                    "name": "cristin-2",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-rich and single thrombospondin domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mCristin-2",
                    "type": "synonym"
                },
                {
                    "name": "roof plate-specific spondin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rspo2",
                    "type": "recommended"
                },
                {
                    "name": "2610028F08Rik",
                    "type": "synonym"
                },
                {
                    "name": "D430027K22",
                    "type": "synonym"
                },
                {
                    "name": "Rspo2",
                    "type": "synonym"
                },
                {
                    "name": "ftls",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFU0-1",
            "evidence": [
                {
                    "id": "0112193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UXX9-1",
            "uniprot_ac": "Q6UXX9",
            "uniprot_id": "RSPO2_HUMAN",
            "refseq_ac": "NP_001269792",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "R-spondin-2",
                    "type": "recommended"
                },
                {
                    "name": "R-spondin 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Roof plate-specific spondin-2",
                    "type": "synonym"
                },
                {
                    "name": "hRspo2",
                    "type": "synonym"
                },
                {
                    "name": "roof plate-specific spondin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSPO2",
                    "type": "recommended"
                },
                {
                    "name": "CRISTIN2",
                    "type": "synonym"
                },
                {
                    "name": "HHRRD",
                    "type": "synonym"
                },
                {
                    "name": "PRO34209",
                    "type": "synonym"
                },
                {
                    "name": "RSPO2",
                    "type": "synonym"
                },
                {
                    "name": "TETAMS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UXX9-1",
            "evidence": [
                {
                    "id": "618021",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618021"
                },
                {
                    "id": "0112193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112193"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112193"
}