{
    "disease_id": "DOID:0081270",
    "recommended_name": {
        "id": "DOID:0081270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081270",
        "name": "Smith-McCort dysplasia 1",
        "description": "A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21."
    },
    "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_list": [
        "DOID:0081270"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081270",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081270",
            "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": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CHY3-1",
            "uniprot_ac": "Q8CHY3",
            "uniprot_id": "DYM_MOUSE",
            "refseq_ac": "NP_082003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dymeclin",
                    "type": "recommended"
                },
                {
                    "name": "dymeclin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dym",
                    "type": "recommended"
                },
                {
                    "name": "1810041M12Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933427L07Rik",
                    "type": "synonym"
                },
                {
                    "name": "C030019K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dym",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHY3-1",
            "evidence": [
                {
                    "id": "0081270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7RTS9-1",
            "uniprot_ac": "Q7RTS9",
            "uniprot_id": "DYM_HUMAN",
            "refseq_ac": "NP_060123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dymeclin",
                    "type": "recommended"
                },
                {
                    "name": "Dyggve-Melchior-Clausen syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "dyggve-Melchior-Clausen syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "dymeclin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYM",
                    "type": "recommended"
                },
                {
                    "name": "DMC",
                    "type": "synonym"
                },
                {
                    "name": "DYM",
                    "type": "synonym"
                },
                {
                    "name": "SMC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7RTS9-1",
            "evidence": [
                {
                    "id": "607326",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607326"
                },
                {
                    "id": "0081270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B4F766-1",
            "uniprot_ac": "B4F766",
            "uniprot_id": "DYM_RAT",
            "refseq_ac": "XP_017456369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dymeclin",
                    "type": "recommended"
                },
                {
                    "name": "dymeclin isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dym",
                    "type": "recommended"
                },
                {
                    "name": "Dym",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309111",
                    "type": "synonym"
                }
            ],
            "record_id": "B4F766-1",
            "evidence": [
                {
                    "id": "0081270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KNA0-1",
            "uniprot_ac": "Q7KNA0",
            "uniprot_id": "DYM_DROME",
            "refseq_ac": "NP_610431",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dymeclin",
                    "type": "recommended"
                },
                {
                    "name": "CG8230-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:GH02536",
                    "type": "synonym"
                },
                {
                    "name": "CG8230",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KNA0-1",
            "evidence": [
                {
                    "id": "0081270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081270"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081270"
}