{
    "disease_id": "DOID:0070302",
    "recommended_name": {
        "id": "DOID:0070302",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070302",
        "name": "multiple epiphyseal dysplasia 7",
        "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070302",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070302",
            "name": "EDM7",
            "description": ""
        },
        {
            "id": "MONDO:0054680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054680",
            "name": "epiphyseal dysplasia, multiple, 7",
            "description": ""
        },
        {
            "id": "MONDO:0054680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054680",
            "name": "epiphyseal dysplasia, multiple, 7",
            "description": ""
        },
        {
            "id": "MONDO:0054680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054680",
            "name": "multiple epiphyseal dysplasia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0054680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054680",
            "name": "EDM7",
            "description": ""
        },
        {
            "id": "MIM:617719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617719",
            "name": "Epiphyseal dysplasia, multiple, 7",
            "description": "Epiphyseal dysplasia, multiple, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070302"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070302",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070302",
            "categories": []
        },
        {
            "id": "MONDO:0054680",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054680",
            "categories": []
        },
        {
            "id": "MIM:617719",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617719",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AXZ6-1",
            "uniprot_ac": "A0A8M3AXZ6",
            "uniprot_id": "A0A8M3AXZ6_DANRE",
            "refseq_ac": "XP_009304599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cant1b",
                    "type": "recommended"
                },
                {
                    "name": "cant1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101021",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXZ6-1",
            "evidence": [
                {
                    "id": "0070302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCF1-1",
            "uniprot_ac": "Q8VCF1",
            "uniprot_id": "CANT1_MOUSE",
            "refseq_ac": "NP_001020788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "apyrase 1, homolog (C. lectularius)",
                    "type": "synonym"
                },
                {
                    "name": "apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cant1",
                    "type": "recommended"
                },
                {
                    "name": "5830420C20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Apy1h",
                    "type": "synonym"
                },
                {
                    "name": "Cant1",
                    "type": "synonym"
                },
                {
                    "name": "D11Bwg0554e",
                    "type": "synonym"
                },
                {
                    "name": "Entpd8",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "Shapy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCF1-1",
            "evidence": [
                {
                    "id": "0070302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVQ1-1",
            "uniprot_ac": "Q8WVQ1",
            "uniprot_id": "CANT1_HUMAN",
            "refseq_ac": "NP_001153244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Putative MAPK-activating protein PM09",
                    "type": "synonym"
                },
                {
                    "name": "Putative NF-kappa-B-activating protein 107",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "apyrase 1 homolog (C. lectularius)",
                    "type": "synonym"
                },
                {
                    "name": "apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification",
                    "type": "synonym"
                },
                {
                    "name": "putative MAPK-activating protein PM09",
                    "type": "synonym"
                },
                {
                    "name": "putative NF-kappa-B-activating protein 107",
                    "type": "synonym"
                },
                {
                    "name": "soluble Ca-activated nucleotidase, isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase SCAN-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CANT1",
                    "type": "recommended"
                },
                {
                    "name": "CANT1",
                    "type": "synonym"
                },
                {
                    "name": "DBQD1",
                    "type": "synonym"
                },
                {
                    "name": "DBQD",
                    "type": "synonym"
                },
                {
                    "name": "EDM7",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "SCAN1",
                    "type": "synonym"
                },
                {
                    "name": "SHAPY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVQ1-1",
            "evidence": [
                {
                    "id": "617719",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617719"
                },
                {
                    "id": "0070302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4Y7-1",
            "uniprot_ac": "Q8K4Y7",
            "uniprot_id": "CANT1_RAT",
            "refseq_ac": "NP_653355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Soluble calcium-activated nucleotidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "SCAN-1",
                    "type": "synonym"
                },
                {
                    "name": "apyrase homolog",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleoside triphosphate diphosphohydrolase 8",
                    "type": "synonym"
                },
                {
                    "name": "soluble calcium-activated nucleotidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cant1",
                    "type": "recommended"
                },
                {
                    "name": "Cant1",
                    "type": "synonym"
                },
                {
                    "name": "Srapy",
                    "type": "synonym"
                },
                {
                    "name": "srapy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4Y7-1",
            "evidence": [
                {
                    "id": "0070302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070302"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGN8-1",
            "uniprot_ac": "Q9VGN8",
            "uniprot_id": "Q9VGN8_DROME",
            "refseq_ac": "NP_001287287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apyrase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "CG5276-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5276",
                    "type": "recommended"
                },
                {
                    "name": "CG5276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5276",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGN8-1",
            "evidence": [
                {
                    "id": "0070302",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070302"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070302"
}