{
    "disease_id": "DOID:0060247",
    "recommended_name": {
        "id": "DOID:0060247",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060247",
        "name": "Smith-McCort dysplasia",
        "description": "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest."
    },
    "synonyms": [
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "Smith-McCort dysplasia 1",
            "description": "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene."
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "Smith-McCort dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "DYM Smith-McCort dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "Smith-McCort dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "Smith-McCort dysplasia caused by mutation in DYM",
            "description": ""
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "Smith-McCort dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "SMC",
            "description": ""
        },
        {
            "id": "MONDO:0011814",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "name": "Smc1",
            "description": ""
        },
        {
            "id": "MIM:607326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607326",
            "name": "Smith-McCort dysplasia 1",
            "description": "Smith-McCort dysplasia 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081270",
            "label": "Smith-McCort dysplasia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081271",
            "label": "Smith-McCort dysplasia 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060247",
        "DOID:0081270",
        "DOID:0081271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060247",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060247",
            "categories": []
        },
        {
            "id": "MONDO:0011814",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011814",
            "categories": []
        },
        {
            "id": "MIM:607326",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607326",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q1L986",
            "uniprot_id": "Q1L986_DANRE",
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            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "small monomeric GTPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rab3b",
                    "type": "recommended"
                },
                {
                    "name": "rab3b",
                    "type": "synonym"
                }
            ],
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                    "id": "0060247",
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                }
            ]
        },
        {
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                }
            ],
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                    "name": "Ras-related protein Rab-13",
                    "type": "recommended"
                },
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                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-13",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "rab13",
                    "type": "recommended"
                },
                {
                    "name": "cb764",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh0455",
                    "type": "synonym"
                },
                {
                    "name": "rab13",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060247"
                }
            ]
        },
        {
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Dymeclin",
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                {
                    "name": "dymeclin isoform 2",
                    "type": "synonym"
                }
            ],
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                    "name": "Dym",
                    "type": "recommended"
                },
                {
                    "name": "1810041M12Rik",
                    "type": "synonym"
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                {
                    "name": "4933427L07Rik",
                    "type": "synonym"
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                {
                    "name": "C030019K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dym",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63011-1",
            "uniprot_ac": "P63011",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Ras-related protein Rab-3A",
                    "type": "recommended"
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                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-3A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Rab3a",
                    "type": "recommended"
                },
                {
                    "name": "Rab3a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35283-1",
            "uniprot_ac": "P35283",
            "uniprot_id": "RAB12_MOUSE",
            "refseq_ac": "NP_077768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-12",
                    "type": "recommended"
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                {
                    "name": "3.6.5.2",
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                },
                {
                    "name": "Rab-13",
                    "type": "synonym"
                },
                {
                    "name": "rab-13",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab12",
                    "type": "recommended"
                },
                {
                    "name": "2900054P15Rik",
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                },
                {
                    "name": "Rab12",
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                    "id": "0060247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060247"
                }
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            "uniprot_canonical_ac": "P55258-1",
            "uniprot_ac": "P55258",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Ras-related protein Rab-8A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
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                },
                {
                    "name": "Oncogene c-mel",
                    "type": "synonym"
                },
                {
                    "name": "cell line NK14 derived transforming oncogene",
                    "type": "synonym"
                },
                {
                    "name": "oncogene c-mel",
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                {
                    "name": "ras-related protein Rab-8A",
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                    "name": "Rab8a",
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                {
                    "name": "Mel",
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                },
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                {
                    "name": "Rab8",
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                }
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                    "id": "0060247",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060247"
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            "uniprot_canonical_ac": "P62823-1",
            "uniprot_ac": "P62823",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "ras-related protein Rab-3C isoform 1",
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                    "name": "3110037E15Rik",
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                {
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            ],
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                    "name": "Ras-related protein Rab-3D",
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                {
                    "name": "ras-related protein Rab-3D",
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                    "name": "Rab3d",
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                    "name": "C130057E11Rik",
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                {
                    "name": "Rab3d",
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                    "id": "0060247",
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            ]
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Dymeclin",
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                },
                {
                    "name": "Dyggve-Melchior-Clausen syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "dyggve-Melchior-Clausen syndrome protein",
                    "type": "synonym"
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                {
                    "name": "dymeclin isoform 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DYM",
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                    "name": "DMC",
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                {
                    "name": "DYM",
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                },
                {
                    "name": "SMC",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "607326",
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                    "url": "https://www.omim.org/entry/607326"
                },
                {
                    "id": "0060247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060247"
                }
            ]
        },
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            "uniprot_canonical_ac": "P07560-1",
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            "refseq_ac": "NP_116650",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Ras-related protein SEC4",
                    "type": "recommended"
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                {
                    "name": "Rab family GTPase SEC4",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of RHO3 protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "SEC4",
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}