{
    "disease_id": "DOID:0061147",
    "recommended_name": {
        "id": "DOID:0061147",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061147",
        "name": "neurodevelopmental disorder with or without autism or seizures",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36."
    },
    "synonyms": [
        {
            "id": "MONDO:0030994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030994",
            "name": "neurodevelopmental disorder with or without autism or seizures",
            "description": ""
        },
        {
            "id": "MONDO:0030994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030994",
            "name": "NEDAUS",
            "description": ""
        },
        {
            "id": "MONDO:0030994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030994",
            "name": "neurodevelopmental disorder with or without autism or seizures",
            "description": ""
        },
        {
            "id": "MIM:619239",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619239",
            "name": "Neurodevelopmental disorder with or without autism or seizures",
            "description": "Neurodevelopmental disorder with or without autism or seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061147"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061147",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061147",
            "categories": []
        },
        {
            "id": "MONDO:0030994",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030994",
            "categories": []
        },
        {
            "id": "MIM:619239",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619239",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NVK8-1",
            "uniprot_ac": "F6NVK8",
            "uniprot_id": "F6NVK8_DANRE",
            "refseq_ac": "NP_955985",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-3a",
                    "type": "synonym"
                },
                {
                    "name": "cullin 3",
                    "type": "synonym"
                },
                {
                    "name": "cullin-3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cul3a",
                    "type": "recommended"
                },
                {
                    "name": "cul3a",
                    "type": "synonym"
                },
                {
                    "name": "cul3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc37e01",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NVK8-1",
            "evidence": [
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLV5-1",
            "uniprot_ac": "Q9JLV5",
            "uniprot_id": "CUL3_MOUSE",
            "refseq_ac": "NP_001300657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-3",
                    "type": "recommended"
                },
                {
                    "name": "CUL-3",
                    "type": "synonym"
                },
                {
                    "name": "cullin-3 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul3",
                    "type": "recommended"
                },
                {
                    "name": "Cul3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0617",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLV5-1",
            "evidence": [
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13618-1",
            "uniprot_ac": "Q13618",
            "uniprot_id": "CUL3_HUMAN",
            "refseq_ac": "NP_001244126",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-3",
                    "type": "recommended"
                },
                {
                    "name": "CUL-3",
                    "type": "synonym"
                },
                {
                    "name": "cullin-3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUL3",
                    "type": "recommended"
                },
                {
                    "name": "CUL-3",
                    "type": "synonym"
                },
                {
                    "name": "CUL3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0617",
                    "type": "synonym"
                },
                {
                    "name": "NEDAUS",
                    "type": "synonym"
                },
                {
                    "name": "PHA2E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13618-1",
            "evidence": [
                {
                    "id": "619239",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619239"
                },
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53202-1",
            "uniprot_ac": "P53202",
            "uniprot_id": "CUL3_YEAST",
            "refseq_ac": "NP_011517",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-3",
                    "type": "recommended"
                },
                {
                    "name": "Cullin-B",
                    "type": "synonym"
                },
                {
                    "name": "cullin CUL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUL3",
                    "type": "recommended"
                },
                {
                    "name": "CUL3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53202-1",
            "evidence": [
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DF89-1",
            "uniprot_ac": "B5DF89",
            "uniprot_id": "CUL3_RAT",
            "refseq_ac": "NP_001100393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-3",
                    "type": "recommended"
                },
                {
                    "name": "cullin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul3",
                    "type": "recommended"
                },
                {
                    "name": "Cul3",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DF89-1",
            "evidence": [
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04764-1",
            "uniprot_ac": "P04764",
            "uniprot_id": "ENOA_RAT",
            "refseq_ac": "NP_001103378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-enolase",
                    "type": "recommended"
                },
                {
                    "name": "2-phospho-D-glycerate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.11",
                    "type": "synonym"
                },
                {
                    "name": "Enolase 1",
                    "type": "synonym"
                },
                {
                    "name": "NNE",
                    "type": "synonym"
                },
                {
                    "name": "Non-neural enolase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-enolase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-enolase",
                    "type": "synonym"
                },
                {
                    "name": "enolase 1, (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "enolase 1, alpha non-neuron",
                    "type": "synonym"
                },
                {
                    "name": "non-neural enolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eno1-ps1",
                    "type": "recommended"
                },
                {
                    "name": "Eno1",
                    "type": "recommended"
                },
                {
                    "name": "Eno-1",
                    "type": "synonym"
                },
                {
                    "name": "Eno1-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Eno1",
                    "type": "synonym"
                },
                {
                    "name": "Nne",
                    "type": "synonym"
                }
            ],
            "record_id": "P04764-1",
            "evidence": [
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP45-1",
            "uniprot_ac": "Q8IP45",
            "uniprot_id": "Q8IP45_DROME",
            "refseq_ac": "NP_723909",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42616-PF",
                    "type": "synonym"
                },
                {
                    "name": "Cul3-PF",
                    "type": "synonym"
                },
                {
                    "name": "Cullin 3, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Cullin3",
                    "type": "synonym"
                },
                {
                    "name": "cullin 3, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "cullin 3",
                    "type": "synonym"
                },
                {
                    "name": "cullin-3",
                    "type": "synonym"
                },
                {
                    "name": "guftagu",
                    "type": "synonym"
                },
                {
                    "name": "medusa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cul3",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS07851.2",
                    "type": "synonym"
                },
                {
                    "name": "CG11861",
                    "type": "synonym"
                },
                {
                    "name": "CG31829",
                    "type": "synonym"
                },
                {
                    "name": "CG42616",
                    "type": "synonym"
                },
                {
                    "name": "CUL-3",
                    "type": "synonym"
                },
                {
                    "name": "CUL3",
                    "type": "synonym"
                },
                {
                    "name": "Cul-3",
                    "type": "synonym"
                },
                {
                    "name": "Cul3",
                    "type": "synonym"
                },
                {
                    "name": "Cullin3",
                    "type": "synonym"
                },
                {
                    "name": "DMcul-3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42616",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42616",
                    "type": "synonym"
                },
                {
                    "name": "br34",
                    "type": "synonym"
                },
                {
                    "name": "cul-3",
                    "type": "synonym"
                },
                {
                    "name": "cul3",
                    "type": "synonym"
                },
                {
                    "name": "dCul-3",
                    "type": "synonym"
                },
                {
                    "name": "dCul3",
                    "type": "synonym"
                },
                {
                    "name": "gft/dCul-3",
                    "type": "synonym"
                },
                {
                    "name": "gft",
                    "type": "synonym"
                },
                {
                    "name": "guftagu",
                    "type": "synonym"
                },
                {
                    "name": "l(2)06430",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Cd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br34",
                    "type": "synonym"
                },
                {
                    "name": "l35Cd",
                    "type": "synonym"
                },
                {
                    "name": "mds",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP45-1",
            "evidence": [
                {
                    "id": "0061147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061147"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061147"
}