{
    "disease_id": "DOID:0111675",
    "recommended_name": {
        "id": "DOID:0111675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111675",
        "name": "neurooculocardiogenitourinary syndrome",
        "description": "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111675",
            "name": "NOCGUS",
            "description": ""
        },
        {
            "id": "MONDO:0032850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032850",
            "name": "neurooculocardiogenitourinary syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032850",
            "name": "NOCGUS",
            "description": ""
        },
        {
            "id": "MIM:618652",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618652",
            "name": "Neurooculocardiogenitourinary syndrome",
            "description": "Neurooculocardiogenitourinary syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111675"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111675",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111675",
            "categories": []
        },
        {
            "id": "MONDO:0032850",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032850",
            "categories": []
        },
        {
            "id": "MIM:618652",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618652",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FEE4-1",
            "uniprot_ac": "E7FEE4",
            "uniprot_id": "E7FEE4_DANRE",
            "refseq_ac": "NP_001161736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdr37",
                    "type": "recommended"
                },
                {
                    "name": "fj52e09",
                    "type": "synonym"
                },
                {
                    "name": "im:7144367",
                    "type": "synonym"
                },
                {
                    "name": "wdr37",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj52e09",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FEE4-1",
            "evidence": [
                {
                    "id": "0111675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CBE3-1",
            "uniprot_ac": "Q8CBE3",
            "uniprot_id": "WDR37_MOUSE",
            "refseq_ac": "NP_001034477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 37 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr37",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0982",
                    "type": "synonym"
                },
                {
                    "name": "Wdr37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CBE3-1",
            "evidence": [
                {
                    "id": "0111675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2I8-1",
            "uniprot_ac": "Q9Y2I8",
            "uniprot_id": "WDR37_HUMAN",
            "refseq_ac": "NP_054742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR37",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0982",
                    "type": "synonym"
                },
                {
                    "name": "NOCGUS",
                    "type": "synonym"
                },
                {
                    "name": "WDR37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2I8-1",
            "evidence": [
                {
                    "id": "618652",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618652"
                },
                {
                    "id": "0111675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LE87-1",
            "uniprot_ac": "A0ABK0LE87",
            "uniprot_id": "A0ABK0LE87_RAT",
            "refseq_ac": "NP_001386226",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 37 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr37",
                    "type": "recommended"
                },
                {
                    "name": "Wdr37",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LE87-1",
            "evidence": [
                {
                    "id": "0111675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE73-1",
            "uniprot_ac": "Q9VE73",
            "uniprot_id": "Q9VE73_DROME",
            "refseq_ac": "NP_650723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 37",
                    "type": "recommended"
                },
                {
                    "name": "CG12333-PA",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 37",
                    "type": "synonym"
                },
                {
                    "name": "Wdr37-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr37",
                    "type": "recommended"
                },
                {
                    "name": "CG12333",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12333",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12333",
                    "type": "synonym"
                },
                {
                    "name": "Wdr37",
                    "type": "synonym"
                },
                {
                    "name": "wdr37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE73-1",
            "evidence": [
                {
                    "id": "0111675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111675"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111675"
}