{
    "disease_id": "DOID:0060933",
    "recommended_name": {
        "id": "DOID:0060933",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060933",
        "name": "developmental delay, dysmorphic facies, and brain anomalies",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060933",
            "name": "DEVDFB",
            "description": ""
        },
        {
            "id": "MONDO:0957810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957810",
            "name": "developmental delay, dysmorphic facies, and brain anomalies",
            "description": ""
        },
        {
            "id": "MIM:620535",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620535",
            "name": "Developmental delay, dysmorphic facies, and brain anomalies",
            "description": "Developmental delay, dysmorphic facies, and brain anomalies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060933"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060933",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060933",
            "categories": []
        },
        {
            "id": "MONDO:0957810",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957810",
            "categories": []
        },
        {
            "id": "MIM:620535",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620535",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F8Y4-1",
            "uniprot_ac": "E7F8Y4",
            "uniprot_id": "E7F8Y4_DANRE",
            "refseq_ac": "XP_005157952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF subunit",
                    "type": "recommended"
                },
                {
                    "name": "U2 small nuclear RNA auxiliary factor 2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "u2af2a",
                    "type": "recommended"
                },
                {
                    "name": "u2af2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110115",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F8Y4-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T7Y9-1",
            "uniprot_ac": "A0AB32T7Y9",
            "uniprot_id": "A0AB32T7Y9_DANRE",
            "refseq_ac": "XP_068071160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF subunit",
                    "type": "recommended"
                },
                {
                    "name": "U2 small nuclear RNA auxiliary factor 2b isoform X4",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "u2af2b",
                    "type": "recommended"
                },
                {
                    "name": "u2af2b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73g02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77804",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7Y9-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26369-1",
            "uniprot_ac": "P26369",
            "uniprot_id": "U2AF2_MOUSE",
            "refseq_ac": "NP_001192160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF 65 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "U2 auxiliary factor 65 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "U2 small nuclear ribonucleoprotein auxiliary factor (U2AF), 65 kDa",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor U2AF 65 kDa subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor U2AF 65 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "U2af2",
                    "type": "recommended"
                },
                {
                    "name": "65kDa",
                    "type": "synonym"
                },
                {
                    "name": "U2af2",
                    "type": "synonym"
                },
                {
                    "name": "U2af65",
                    "type": "synonym"
                }
            ],
            "record_id": "P26369-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26368-1",
            "uniprot_ac": "P26368",
            "uniprot_id": "U2AF2_HUMAN",
            "refseq_ac": "NP_001012496",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF 65 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "U2 (RNU2) small nuclear RNA auxiliary factor 2",
                    "type": "synonym"
                },
                {
                    "name": "U2 auxiliary factor 65 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                },
                {
                    "name": "hU2AF(65)",
                    "type": "synonym"
                },
                {
                    "name": "hU2AF65",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor U2AF 65 kDa subunit isoform b",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor U2AF 65 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "U2AF2",
                    "type": "recommended"
                },
                {
                    "name": "DEVDFB",
                    "type": "synonym"
                },
                {
                    "name": "U2AF2",
                    "type": "synonym"
                },
                {
                    "name": "U2AF65",
                    "type": "synonym"
                }
            ],
            "record_id": "P26368-1",
            "evidence": [
                {
                    "id": "620535",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620535"
                },
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36084-1",
            "uniprot_ac": "P36084",
            "uniprot_id": "MUD2_YEAST",
            "refseq_ac": "NP_012849",
            "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": "Splicing factor MUD2",
                    "type": "recommended"
                },
                {
                    "name": "Mud2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUD2",
                    "type": "recommended"
                },
                {
                    "name": "MUD2",
                    "type": "synonym"
                },
                {
                    "name": "YKL358",
                    "type": "synonym"
                }
            ],
            "record_id": "P36084-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F2Z3T9-1",
            "uniprot_ac": "F2Z3T9",
            "uniprot_id": "F2Z3T9_RAT",
            "refseq_ac": "NP_001414127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF subunit",
                    "type": "recommended"
                },
                {
                    "name": "U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor U2AF 65 kDa subunit isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor U2AF 65 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "U2af2",
                    "type": "recommended"
                },
                {
                    "name": "LOC690372",
                    "type": "synonym"
                },
                {
                    "name": "U2af2",
                    "type": "synonym"
                }
            ],
            "record_id": "F2Z3T9-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24562-1",
            "uniprot_ac": "Q24562",
            "uniprot_id": "U2AF2_DROME",
            "refseq_ac": "NP_001245710",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF 50 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG9998-PD",
                    "type": "synonym"
                },
                {
                    "name": "U2 auxiliary factor 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "U2 small nuclear riboprotein auxiliary factor 50, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                },
                {
                    "name": "U2af50-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "U2af50",
                    "type": "recommended"
                },
                {
                    "name": "9-21",
                    "type": "synonym"
                },
                {
                    "name": "CG9998",
                    "type": "synonym"
                },
                {
                    "name": "DU2AF50",
                    "type": "synonym"
                },
                {
                    "name": "DmU2AF[50]",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9998",
                    "type": "synonym"
                },
                {
                    "name": "U2AF 50",
                    "type": "synonym"
                },
                {
                    "name": "U2AF-50",
                    "type": "synonym"
                },
                {
                    "name": "U2AF50",
                    "type": "synonym"
                },
                {
                    "name": "U2AF",
                    "type": "synonym"
                },
                {
                    "name": "U2af50",
                    "type": "synonym"
                },
                {
                    "name": "U2af",
                    "type": "synonym"
                },
                {
                    "name": "dU2AF50",
                    "type": "synonym"
                },
                {
                    "name": "dU2AF[50]",
                    "type": "synonym"
                },
                {
                    "name": "dUTAf[50]",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Cc",
                    "type": "synonym"
                },
                {
                    "name": "l(1)9-21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24562-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1T4-1",
            "uniprot_ac": "Q9W1T4",
            "uniprot_id": "Q9W1T4_DROME",
            "refseq_ac": "NP_611769",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Splicing factor U2AF subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG3162-PA",
                    "type": "synonym"
                },
                {
                    "name": "LS2-PA",
                    "type": "synonym"
                },
                {
                    "name": "U2 snRNP auxiliary factor large subunit",
                    "type": "synonym"
                },
                {
                    "name": "large subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LS2",
                    "type": "recommended"
                },
                {
                    "name": "CG3162",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3162",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3162",
                    "type": "synonym"
                },
                {
                    "name": "LS2",
                    "type": "synonym"
                },
                {
                    "name": "cg3162",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1T4-1",
            "evidence": [
                {
                    "id": "0060933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060933"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060933"
}