{
    "disease_id": "DOID:0080980",
    "recommended_name": {
        "id": "DOID:0080980",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080980",
        "name": "arthrogryposis multiplex congenita-4",
        "description": "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080980",
            "name": "Zain syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032903",
            "name": "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0032903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032903",
            "name": "AMCNACC",
            "description": ""
        },
        {
            "id": "MONDO:0032903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032903",
            "name": "arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:618766",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618766",
            "name": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum",
            "description": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080980"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080980",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080980",
            "categories": []
        },
        {
            "id": "MONDO:0032903",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032903",
            "categories": []
        },
        {
            "id": "MIM:618766",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618766",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L881-1",
            "uniprot_ac": "Q1L881",
            "uniprot_id": "Q1L881_DANRE",
            "refseq_ac": "NP_001074268",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCY1-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scyl2",
                    "type": "recommended"
                },
                {
                    "name": "scyl2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-244b2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L881-1",
            "evidence": [
                {
                    "id": "0080980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFE4-1",
            "uniprot_ac": "Q8CFE4",
            "uniprot_id": "SCYL2_MOUSE",
            "refseq_ac": "NP_932138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCY1-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Coated vesicle-associated kinase of 104 kDa",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "coated vesicle-associated kinase of 104 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scyl2",
                    "type": "recommended"
                },
                {
                    "name": "CVAK104",
                    "type": "synonym"
                },
                {
                    "name": "Cvak104",
                    "type": "synonym"
                },
                {
                    "name": "D10Ertd802e",
                    "type": "synonym"
                },
                {
                    "name": "Scyl2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFE4-1",
            "evidence": [
                {
                    "id": "0080980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P3W7-1",
            "uniprot_ac": "Q6P3W7",
            "uniprot_id": "SCYL2_HUMAN",
            "refseq_ac": "NP_001304713",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCY1-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Coated vesicle-associated kinase of 104 kDa",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 2",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like, kinase-like 2",
                    "type": "synonym"
                },
                {
                    "name": "coated vesicle-associated kinase of 104 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCYL2",
                    "type": "recommended"
                },
                {
                    "name": "AMC4",
                    "type": "synonym"
                },
                {
                    "name": "AMCNACC",
                    "type": "synonym"
                },
                {
                    "name": "CVAK104",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1360",
                    "type": "synonym"
                },
                {
                    "name": "SCYL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P3W7-1",
            "evidence": [
                {
                    "id": "618766",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618766"
                },
                {
                    "id": "0080980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53009-1",
            "uniprot_ac": "P53009",
            "uniprot_id": "SCY1_YEAST",
            "refseq_ac": "NP_011432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase-like protein SCY1",
                    "type": "recommended"
                },
                {
                    "name": "Scy1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCY1",
                    "type": "recommended"
                },
                {
                    "name": "SCY1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53009-1",
            "evidence": [
                {
                    "id": "0080980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1Y0-1",
            "uniprot_ac": "D4A1Y0",
            "uniprot_id": "D4A1Y0_RAT",
            "refseq_ac": "NP_001178709",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCY1-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Coated vesicle-associated kinase of 104 kDa",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 2",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like, kinase-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scyl2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305665",
                    "type": "synonym"
                },
                {
                    "name": "Scyl2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A1Y0-1",
            "evidence": [
                {
                    "id": "0080980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAR0-1",
            "uniprot_ac": "Q9VAR0",
            "uniprot_id": "Q9VAR0_DROME",
            "refseq_ac": "NP_651655",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG1951-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1951",
                    "type": "recommended"
                },
                {
                    "name": "CG1951",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1951",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1951",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAR0-1",
            "evidence": [
                {
                    "id": "0080980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080980"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080980"
}