{
    "disease_id": "DOID:0060765",
    "recommended_name": {
        "id": "DOID:0060765",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060765",
        "name": "autosomal dominant Robinow syndrome 2",
        "description": "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0060765",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060765",
            "name": "DRS2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "autosomal dominant Robinow syndrome 2",
            "description": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene."
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "DRS2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "DVL1 autosomal dominant Robinow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "Robinow syndrome, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "autosomal dominant Robinow syndrome caused by mutation in DVL1",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "autosomal dominant Robinow syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "Robinow syndrome, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MIM:616331",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616331",
            "name": "Robinow syndrome, autosomal dominant 2",
            "description": "Robinow syndrome, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060765"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060765",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060765",
            "categories": []
        },
        {
            "id": "MONDO:0014591",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "categories": []
        },
        {
            "id": "MIM:616331",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616331",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BGK1-1",
            "uniprot_ac": "A0A8M2BGK1",
            "uniprot_id": "A0A8M2BGK1_DANRE",
            "refseq_ac": "XP_005169354",
            "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-1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dvl1b",
                    "type": "recommended"
                },
                {
                    "name": "dvl1b",
                    "type": "synonym"
                },
                {
                    "name": "dvl1",
                    "type": "synonym"
                },
                {
                    "name": "dvl2l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BGK1-1",
            "evidence": [
                {
                    "id": "0060765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51141-1",
            "uniprot_ac": "P51141",
            "uniprot_id": "DVL1_MOUSE",
            "refseq_ac": "NP_034221",
            "glycoprotein": "yes",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "DSH homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dishevelled-1",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled-1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dvl1",
                    "type": "recommended"
                },
                {
                    "name": "Dvl1",
                    "type": "synonym"
                },
                {
                    "name": "Dvl",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4029",
                    "type": "synonym"
                }
            ],
            "record_id": "P51141-1",
            "evidence": [
                {
                    "id": "0060765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14640-1",
            "uniprot_ac": "O14640",
            "uniprot_id": "DVL1_HUMAN",
            "refseq_ac": "NP_001317240",
            "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-1",
                    "type": "recommended"
                },
                {
                    "name": "DSH homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dishevelled-1",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled 1 (homologous to Drosophila dsh)",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled-1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DVL1",
                    "type": "recommended"
                },
                {
                    "name": "DRS2",
                    "type": "synonym"
                },
                {
                    "name": "DVL1L1",
                    "type": "synonym"
                },
                {
                    "name": "DVL1",
                    "type": "synonym"
                },
                {
                    "name": "DVL",
                    "type": "synonym"
                }
            ],
            "record_id": "O14640-1",
            "evidence": [
                {
                    "id": "616331",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616331"
                },
                {
                    "id": "0060765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVB9-1",
            "uniprot_ac": "Q9WVB9",
            "uniprot_id": "DVL1_RAT",
            "refseq_ac": "NP_114008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segment polarity protein dishevelled homolog DVL-1",
                    "type": "recommended"
                },
                {
                    "name": "DSH homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Dishevelled-1",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled, dsh homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "dishevelled-1",
                    "type": "synonym"
                },
                {
                    "name": "segment polarity protein dishevelled homolog DVL-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dvl1",
                    "type": "recommended"
                },
                {
                    "name": "Dvl1",
                    "type": "synonym"
                },
                {
                    "name": "dvl-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVB9-1",
            "evidence": [
                {
                    "id": "0060765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060765"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02527-1",
            "uniprot_ac": "Q02527",
            "uniprot_id": "MGAT3_RAT",
            "refseq_ac": "NP_062112",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.144",
                    "type": "synonym"
                },
                {
                    "name": "GNT-III",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-T III",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-T III",
                    "type": "synonym"
                },
                {
                    "name": "mannoside acetyl glucosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mgat3",
                    "type": "recommended"
                },
                {
                    "name": "Gnt3",
                    "type": "synonym"
                },
                {
                    "name": "Mgat3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02527-1",
            "evidence": [
                {
                    "id": "0060765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060765"
                }
            ]
        },
        {
            "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": "0060765",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060765"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060765"
}