{
    "disease_id": "DOID:0060767",
    "recommended_name": {
        "id": "DOID:0060767",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060767",
        "name": "autosomal dominant Robinow syndrome 3",
        "description": "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0060767",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060767",
            "name": "DRS3",
            "description": ""
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "autosomal dominant Robinow syndrome 3",
            "description": "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene."
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "DRS3",
            "description": ""
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "DVL3 Robinow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "Robinow syndrome caused by mutation in DVL3",
            "description": ""
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "Robinow syndrome, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "Robinow syndrome, autosomal dominant type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "name": "autosomal dominant Robinow syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:616894",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616894",
            "name": "Robinow syndrome, autosomal dominant 3",
            "description": "Robinow syndrome, autosomal dominant 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060767"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060767",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060767",
            "categories": []
        },
        {
            "id": "MONDO:0014819",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014819",
            "categories": []
        },
        {
            "id": "MIM:616894",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616894",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JMI2-1",
            "uniprot_ac": "B8JMI2",
            "uniprot_id": "B8JMI2_DANRE",
            "refseq_ac": "NP_571832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segment polarity protein dishevelled homolog DVL-3a",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled 3",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 3a",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dvl3a",
                    "type": "recommended"
                },
                {
                    "name": "dvl3a",
                    "type": "synonym"
                },
                {
                    "name": "dvl3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb75f04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi22h02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fp61b09",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JMI2-1",
            "evidence": [
                {
                    "id": "0060767",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060767"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61062-1",
            "uniprot_ac": "Q61062",
            "uniprot_id": "DVL3_MOUSE",
            "refseq_ac": "NP_031915",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segment polarity protein dishevelled homolog DVL-3",
                    "type": "recommended"
                },
                {
                    "name": "DSH homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Dishevelled-3",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled 3, dsh homolog",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dvl3",
                    "type": "recommended"
                },
                {
                    "name": "Dvl3",
                    "type": "synonym"
                },
                {
                    "name": "b2b2866Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61062-1",
            "evidence": [
                {
                    "id": "0060767",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060767"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92997-1",
            "uniprot_ac": "Q92997",
            "uniprot_id": "DVL3_HUMAN",
            "refseq_ac": "NP_004414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segment polarity protein dishevelled homolog DVL-3",
                    "type": "recommended"
                },
                {
                    "name": "DSH homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Dishevelled-3",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled 3 (homologous to Drosophila dsh)",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DVL3",
                    "type": "recommended"
                },
                {
                    "name": "DRS3",
                    "type": "synonym"
                },
                {
                    "name": "DVL3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0208",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92997-1",
            "evidence": [
                {
                    "id": "616894",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616894"
                },
                {
                    "id": "0060767",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060767"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADV8-1",
            "uniprot_ac": "D4ADV8",
            "uniprot_id": "D4ADV8_RAT",
            "refseq_ac": "XP_063126544",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dishevelled segment polarity protein 3",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dvl3",
                    "type": "recommended"
                },
                {
                    "name": "Dvl3",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADV8-1",
            "evidence": [
                {
                    "id": "0060767",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060767"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24528-1",
            "uniprot_ac": "P24528",
            "uniprot_id": "MGMT_RAT",
            "refseq_ac": "NP_036993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylated-DNA--protein-cysteine methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "0-6-methylguanine-DNA methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.63",
                    "type": "synonym"
                },
                {
                    "name": "6-O-methylguanine-DNA methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "MGMT",
                    "type": "synonym"
                },
                {
                    "name": "O(6)-alkylguanine-DNA alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "O-6-methylguanine-DNA-alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "O6-alkylguanine-DNA alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "O6-methylguanine-DNA methyltranferase",
                    "type": "synonym"
                },
                {
                    "name": "methylated-DNA--protein-cysteine methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mgmt",
                    "type": "recommended"
                },
                {
                    "name": "Mgmt",
                    "type": "synonym"
                }
            ],
            "record_id": "P24528-1",
            "evidence": [
                {
                    "id": "0060767",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060767"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51140-1",
            "uniprot_ac": "P51140",
            "uniprot_id": "DSH_DROME",
            "refseq_ac": "NP_511118",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segment polarity protein dishevelled",
                    "type": "recommended"
                },
                {
                    "name": "CG18361-PA",
                    "type": "synonym"
                },
                {
                    "name": "disheveled",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled",
                    "type": "synonym"
                },
                {
                    "name": "disshevelled",
                    "type": "synonym"
                },
                {
                    "name": "dsh-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dsh",
                    "type": "recommended"
                },
                {
                    "name": "CG1720",
                    "type": "synonym"
                },
                {
                    "name": "CG18361",
                    "type": "synonym"
                },
                {
                    "name": "DSH",
                    "type": "synonym"
                },
                {
                    "name": "DVL1-3",
                    "type": "synonym"
                },
                {
                    "name": "Dm Dsh",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18361",
                    "type": "synonym"
                },
                {
                    "name": "Dsh",
                    "type": "synonym"
                },
                {
                    "name": "Dvl",
                    "type": "synonym"
                },
                {
                    "name": "dsh",
                    "type": "synonym"
                },
                {
                    "name": "l(1)10Bd",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0267",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G17",
                    "type": "synonym"
                },
                {
                    "name": "l(1)dsh",
                    "type": "synonym"
                }
            ],
            "record_id": "P51140-1",
            "evidence": [
                {
                    "id": "0060767",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060767"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060767"
}