{
    "disease_id": "DOID:0060241",
    "recommended_name": {
        "id": "DOID:0060241",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060241",
        "name": "3-M syndrome",
        "description": "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities."
    },
    "synonyms": [
        {
            "id": "DOID:0060241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "name": "Le Merrer syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "name": "Miller-McKusick-Malvaux syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "name": "Yakut short stature syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "name": "dolichospondylic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0060241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "name": "gloomy face syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "name": "three M syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "3M syndrome 1",
            "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene."
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "3-M syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "3-M syndrome caused by mutation in CUL7",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "3-M syndrome caused by mutation in Cul7",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "CUL7 3-M syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "Cul7 3-M syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "three M syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "three M syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "name": "3M1",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "3M syndrome 2",
            "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene."
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "3-M syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "3-M syndrome caused by mutation in OBSL1",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "3M syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "OBSL1 3-M syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "three M syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "three M syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "name": "3M2",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "3M syndrome 3",
            "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene."
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "3-M syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "3-M syndrome caused by mutation in CCDC8",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "3M syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "CCDC8 3-M syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "three M syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "three M syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "name": "3M3",
            "description": ""
        },
        {
            "id": "MIM:273750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/273750",
            "name": "3M syndrome 1",
            "description": "3M syndrome 1"
        },
        {
            "id": "MIM:612921",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612921",
            "name": "3M syndrome 2",
            "description": "3M syndrome 2"
        },
        {
            "id": "MIM:614205",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614205",
            "name": "3M syndrome 3",
            "description": "3M syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060241"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060241",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060241",
            "categories": []
        },
        {
            "id": "MONDO:0010117",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010117",
            "categories": []
        },
        {
            "id": "MONDO:0013039",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013039",
            "categories": []
        },
        {
            "id": "MONDO:0013627",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013627",
            "categories": []
        },
        {
            "id": "MIM:273750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/273750",
            "categories": []
        },
        {
            "id": "MIM:612921",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612921",
            "categories": []
        },
        {
            "id": "MIM:614205",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614205",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q5Q8-1",
            "uniprot_ac": "A0A8M9Q5Q8",
            "uniprot_id": "A0A8M9Q5Q8_DANRE",
            "refseq_ac": "XP_021334748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Obscurin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "obscurin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "obsl1b",
                    "type": "recommended"
                },
                {
                    "name": "obsl1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q5Q8-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BDK6-1",
            "uniprot_ac": "A0A8M2BDK6",
            "uniprot_id": "A0A8M2BDK6_DANRE",
            "refseq_ac": "XP_005166286",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Obscurin-like protein 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "obscurin-like protein 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "obsl1a",
                    "type": "recommended"
                },
                {
                    "name": "obsl1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-91f15.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDK6-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3YZV8-1",
            "uniprot_ac": "D3YZV8",
            "uniprot_id": "CCDC8_MOUSE",
            "refseq_ac": "NP_001095005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 8 homolog",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 8 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc8",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc8",
                    "type": "synonym"
                }
            ],
            "record_id": "D3YZV8-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VE73-1",
            "uniprot_ac": "Q8VE73",
            "uniprot_id": "CUL7_MOUSE",
            "refseq_ac": "NP_079887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-7",
                    "type": "recommended"
                },
                {
                    "name": "CUL-7",
                    "type": "synonym"
                },
                {
                    "name": "cullin-7",
                    "type": "synonym"
                },
                {
                    "name": "p185",
                    "type": "synonym"
                },
                {
                    "name": "p193",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul7",
                    "type": "recommended"
                },
                {
                    "name": "2510004L20Rik",
                    "type": "synonym"
                },
                {
                    "name": "C230011P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cul7",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0076",
                    "type": "synonym"
                },
                {
                    "name": "p185",
                    "type": "synonym"
                },
                {
                    "name": "p193",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VE73-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3YYU8-1",
            "uniprot_ac": "D3YYU8",
            "uniprot_id": "OBSL1_MOUSE",
            "refseq_ac": "NP_849215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Obscurin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "obscurin-like protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "obscurin-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Obsl1",
                    "type": "recommended"
                },
                {
                    "name": "Obsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3YYU8-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75147-3",
            "uniprot_ac": "O75147",
            "uniprot_id": "OBSL1_HUMAN",
            "refseq_ac": "NP_001166879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Obscurin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "obscurin like 1",
                    "type": "synonym"
                },
                {
                    "name": "obscurin-like protein 1 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "obscurin-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OBSL1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0657",
                    "type": "synonym"
                },
                {
                    "name": "OBSL1",
                    "type": "synonym"
                }
            ],
            "record_id": "O75147-3",
            "evidence": [
                {
                    "id": "612921",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612921"
                },
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14999-1",
            "uniprot_ac": "Q14999",
            "uniprot_id": "CUL7_HUMAN",
            "refseq_ac": "NP_055595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-7",
                    "type": "recommended"
                },
                {
                    "name": "CUL-7",
                    "type": "synonym"
                },
                {
                    "name": "cullin-7 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUL7",
                    "type": "recommended"
                },
                {
                    "name": "3M1",
                    "type": "synonym"
                },
                {
                    "name": "CUL-7",
                    "type": "synonym"
                },
                {
                    "name": "CUL7",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0076",
                    "type": "synonym"
                },
                {
                    "name": "dJ20C7.5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14999-1",
            "evidence": [
                {
                    "id": "273750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/273750"
                },
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0W5-1",
            "uniprot_ac": "Q9H0W5",
            "uniprot_id": "CCDC8_HUMAN",
            "refseq_ac": "NP_114429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 8",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC8",
                    "type": "recommended"
                },
                {
                    "name": "3M3",
                    "type": "synonym"
                },
                {
                    "name": "CCDC8",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R20",
                    "type": "synonym"
                },
                {
                    "name": "p90",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0W5-1",
            "evidence": [
                {
                    "id": "614205",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614205"
                },
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62521-1",
            "uniprot_ac": "P62521",
            "uniprot_id": "CCDC8_RAT",
            "refseq_ac": "NP_001009533",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 8",
                    "type": "synonym"
                },
                {
                    "name": "probable Coiled-coil domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc8",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc8",
                    "type": "synonym"
                }
            ],
            "record_id": "P62521-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEF4-1",
            "uniprot_ac": "D3ZEF4",
            "uniprot_id": "CUL7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-7",
                    "type": "recommended"
                },
                {
                    "name": "CUL-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul7",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZEF4-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZ80-1",
            "uniprot_ac": "D3ZZ80",
            "uniprot_id": "OBSL1_RAT",
            "refseq_ac": "NP_001395974",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Obscurin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Obscurin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "obscurin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "obscurin-like protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Obsl1",
                    "type": "recommended"
                },
                {
                    "name": "Obsl1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306073",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZ80-1",
            "evidence": [
                {
                    "id": "0060241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060241"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060241"
}