{
    "disease_id": "DOID:0060766",
    "recommended_name": {
        "id": "DOID:0060766",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060766",
        "name": "autosomal dominant Robinow syndrome 1",
        "description": "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p."
    },
    "synonyms": [
        {
            "id": "DOID:0060766",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060766",
            "name": "DRS1",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "autosomal dominant Robinow syndrome 1",
            "description": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene."
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "DRS1",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "Robinow syndrome, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "WNT5A autosomal dominant Robinow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "autosomal dominant Robinow syndrome caused by mutation in WNT5A",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "dysostosis acral with facial and genital abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "foetal face syndrome",
            "description": ""
        },
        {
            "id": "MIM:180700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180700",
            "name": "Robinow syndrome, autosomal dominant 1",
            "description": "Robinow syndrome, autosomal dominant 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060766"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060766",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060766",
            "categories": []
        },
        {
            "id": "MONDO:0024455",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "categories": []
        },
        {
            "id": "MIM:180700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/180700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U0B6-1",
            "uniprot_ac": "A0AB32U0B6",
            "uniprot_id": "A0AB32U0B6_DANRE",
            "refseq_ac": "XP_068079103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-5a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wnt5a",
                    "type": "recommended"
                },
                {
                    "name": "wnt5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U0B6-1",
            "evidence": [
                {
                    "id": "0060766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22725-1",
            "uniprot_ac": "P22725",
            "uniprot_id": "WNT5A_MOUSE",
            "refseq_ac": "NP_001243153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-5a",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-5a isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-5a",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 5A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt5a",
                    "type": "recommended"
                },
                {
                    "name": "8030457G12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-5a",
                    "type": "synonym"
                },
                {
                    "name": "Wnt5a",
                    "type": "synonym"
                }
            ],
            "record_id": "P22725-1",
            "evidence": [
                {
                    "id": "0060766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41221-1",
            "uniprot_ac": "P41221",
            "uniprot_id": "WNT5A_HUMAN",
            "refseq_ac": "NP_001243034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-5a",
                    "type": "recommended"
                },
                {
                    "name": "WNT-5A protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-5a isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-5a",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 5A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNT5A",
                    "type": "recommended"
                },
                {
                    "name": "WNT5A",
                    "type": "synonym"
                },
                {
                    "name": "hWNT5A",
                    "type": "synonym"
                }
            ],
            "record_id": "P41221-1",
            "evidence": [
                {
                    "id": "180700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/180700"
                },
                {
                    "id": "0060766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXQ7-1",
            "uniprot_ac": "Q9QXQ7",
            "uniprot_id": "WNT5A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-5a",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt5a",
                    "type": "recommended"
                },
                {
                    "name": "Wnt-5a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXQ7-1",
            "evidence": [
                {
                    "id": "0060766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28466-1",
            "uniprot_ac": "P28466",
            "uniprot_id": "WNT5_DROME",
            "refseq_ac": "NP_001285407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-5",
                    "type": "recommended"
                },
                {
                    "name": "CG6407-PB",
                    "type": "synonym"
                },
                {
                    "name": "Wnt oncogene analog 5, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Wnt5-PB",
                    "type": "synonym"
                },
                {
                    "name": "dWnt-3",
                    "type": "synonym"
                },
                {
                    "name": "dWnt-5",
                    "type": "synonym"
                },
                {
                    "name": "wnt-oncogene-analog-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt5",
                    "type": "recommended"
                },
                {
                    "name": "5",
                    "type": "synonym"
                },
                {
                    "name": "CG6407",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-3/5",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-3",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-5",
                    "type": "synonym"
                },
                {
                    "name": "DWnt3/5",
                    "type": "synonym"
                },
                {
                    "name": "DWnt3",
                    "type": "synonym"
                },
                {
                    "name": "DWnt5",
                    "type": "synonym"
                },
                {
                    "name": "Dm DWnt3/5",
                    "type": "synonym"
                },
                {
                    "name": "Dm-3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6407",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6407",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt-3",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt-5",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt3/5",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt3",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt5",
                    "type": "synonym"
                },
                {
                    "name": "WNT-5",
                    "type": "synonym"
                },
                {
                    "name": "WNT5",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-3",
                    "type": "synonym"
                },
                {
                    "name": "Wnt3/5",
                    "type": "synonym"
                },
                {
                    "name": "Wnt3",
                    "type": "synonym"
                },
                {
                    "name": "Wnt5",
                    "type": "synonym"
                },
                {
                    "name": "Wnt",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.228",
                    "type": "synonym"
                },
                {
                    "name": "wnt3",
                    "type": "synonym"
                },
                {
                    "name": "wnt5",
                    "type": "synonym"
                }
            ],
            "record_id": "P28466-1",
            "evidence": [
                {
                    "id": "0060766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060766"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060766"
}