{
    "disease_id": "DOID:0070473",
    "recommended_name": {
        "id": "DOID:0070473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070473",
        "name": "Zaki syndrome",
        "description": "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies."
    },
    "synonyms": [
        {
            "id": "MONDO:0859209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859209",
            "name": "Zaki syndrome",
            "description": ""
        },
        {
            "id": "MIM:619648",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619648",
            "name": "Zaki syndrome",
            "description": "Zaki syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070473"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070473",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070473",
            "categories": []
        },
        {
            "id": "MONDO:0859209",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859209",
            "categories": []
        },
        {
            "id": "MIM:619648",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619648",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F2Z4U3-1",
            "uniprot_ac": "F2Z4U3",
            "uniprot_id": "F2Z4U3_DANRE",
            "refseq_ac": "NP_998311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 177",
                    "type": "synonym"
                },
                {
                    "name": "Protein wntless homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein wntless homolog",
                    "type": "synonym"
                },
                {
                    "name": "wntless Wnt ligand secretion mediator",
                    "type": "synonym"
                },
                {
                    "name": "wntless homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wls",
                    "type": "recommended"
                },
                {
                    "name": "gpr117",
                    "type": "synonym"
                },
                {
                    "name": "gpr177",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd2010",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb610",
                    "type": "synonym"
                },
                {
                    "name": "wls",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36d04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb44d10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb50c06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64091",
                    "type": "synonym"
                }
            ],
            "record_id": "F2Z4U3-1",
            "evidence": [
                {
                    "id": "0070473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DID7-1",
            "uniprot_ac": "Q6DID7",
            "uniprot_id": "WLS_MOUSE",
            "refseq_ac": "NP_080858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein wntless homolog",
                    "type": "recommended"
                },
                {
                    "name": "EVI",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 177",
                    "type": "synonym"
                },
                {
                    "name": "Integral membrane protein GPR177",
                    "type": "synonym"
                },
                {
                    "name": "Protein evenness interrupted homolog",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein GPR177",
                    "type": "synonym"
                },
                {
                    "name": "protein evenness interrupted homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein wntless homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "wntless homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wls",
                    "type": "recommended"
                },
                {
                    "name": "5031439A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "EVI",
                    "type": "synonym"
                },
                {
                    "name": "Gpr177",
                    "type": "synonym"
                },
                {
                    "name": "Wls",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DID7-1",
            "evidence": [
                {
                    "id": "0070473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T9L3-1",
            "uniprot_ac": "Q5T9L3",
            "uniprot_id": "WLS_HUMAN",
            "refseq_ac": "NP_001002292",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein wntless homolog",
                    "type": "recommended"
                },
                {
                    "name": "EVI",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 177",
                    "type": "synonym"
                },
                {
                    "name": "Integral membrane protein GPR177",
                    "type": "synonym"
                },
                {
                    "name": "Protein evenness interrupted homolog",
                    "type": "synonym"
                },
                {
                    "name": "Putative NF-kappa-B-activating protein 373",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein GPR177",
                    "type": "synonym"
                },
                {
                    "name": "protein evenness interrupted homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein wntless homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "putative NF-kappa-B-activating protein 373",
                    "type": "synonym"
                },
                {
                    "name": "putative NFkB activating protein 373",
                    "type": "synonym"
                },
                {
                    "name": "wntless Wnt ligand secretion mediator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WLS",
                    "type": "recommended"
                },
                {
                    "name": "C1orf139",
                    "type": "synonym"
                },
                {
                    "name": "EVI",
                    "type": "synonym"
                },
                {
                    "name": "GPR177",
                    "type": "synonym"
                },
                {
                    "name": "MRP",
                    "type": "synonym"
                },
                {
                    "name": "PRO18667",
                    "type": "synonym"
                },
                {
                    "name": "WLS",
                    "type": "synonym"
                },
                {
                    "name": "ZKS",
                    "type": "synonym"
                },
                {
                    "name": "mig-14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T9L3-1",
            "evidence": [
                {
                    "id": "619648",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619648"
                },
                {
                    "id": "0070473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P689-1",
            "uniprot_ac": "Q6P689",
            "uniprot_id": "WLS_RAT",
            "refseq_ac": "NP_001078822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein wntless homolog",
                    "type": "recommended"
                },
                {
                    "name": "EVI",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 177",
                    "type": "synonym"
                },
                {
                    "name": "Integral membrane protein GPR177",
                    "type": "synonym"
                },
                {
                    "name": "Protein evenness interrupted homolog",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein GPR177",
                    "type": "synonym"
                },
                {
                    "name": "protein evenness interrupted homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein wntless homolog",
                    "type": "synonym"
                },
                {
                    "name": "wntless Wnt ligand secretion mediator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wls",
                    "type": "recommended"
                },
                {
                    "name": "Gpr177",
                    "type": "synonym"
                },
                {
                    "name": "Wls",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P689-1",
            "evidence": [
                {
                    "id": "0070473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95ST2-1",
            "uniprot_ac": "Q95ST2",
            "uniprot_id": "WLS_DROME",
            "refseq_ac": "NP_648445",
            "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 wntless",
                    "type": "recommended"
                },
                {
                    "name": "CG6210-PA",
                    "type": "synonym"
                },
                {
                    "name": "Evenness interrupted",
                    "type": "synonym"
                },
                {
                    "name": "Sprinter",
                    "type": "synonym"
                },
                {
                    "name": "evenness interrupted",
                    "type": "synonym"
                },
                {
                    "name": "sprinter",
                    "type": "synonym"
                },
                {
                    "name": "wls-PA",
                    "type": "synonym"
                },
                {
                    "name": "wntless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "wntless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wls",
                    "type": "recommended"
                },
                {
                    "name": "CG6210",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6210",
                    "type": "synonym"
                },
                {
                    "name": "Evi/Wls",
                    "type": "synonym"
                },
                {
                    "name": "Evi",
                    "type": "synonym"
                },
                {
                    "name": "Spr",
                    "type": "synonym"
                },
                {
                    "name": "Srt",
                    "type": "synonym"
                },
                {
                    "name": "Wls/Evi",
                    "type": "synonym"
                },
                {
                    "name": "Wls",
                    "type": "synonym"
                },
                {
                    "name": "evi",
                    "type": "synonym"
                },
                {
                    "name": "srt",
                    "type": "synonym"
                },
                {
                    "name": "wls/evi",
                    "type": "synonym"
                },
                {
                    "name": "wls",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95ST2-1",
            "evidence": [
                {
                    "id": "0070473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070473"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070473"
}