{
    "disease_id": "DOID:0070513",
    "recommended_name": {
        "id": "DOID:0070513",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070513",
        "name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070513",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070513",
            "name": "NEDFBA",
            "description": ""
        },
        {
            "id": "MONDO:0957583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957583",
            "name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MIM:620489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620489",
            "name": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
            "description": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070513"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070513",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070513",
            "categories": []
        },
        {
            "id": "MONDO:0957583",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957583",
            "categories": []
        },
        {
            "id": "MIM:620489",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620489",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SXP4-1",
            "uniprot_ac": "Q7SXP4",
            "uniprot_id": "SRS1A_DANRE",
            "refseq_ac": "NP_998180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 1A",
                    "type": "recommended"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1A",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1A",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1, like",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srsf1a",
                    "type": "recommended"
                },
                {
                    "name": "sfrs1a",
                    "type": "synonym"
                },
                {
                    "name": "sfrs1l",
                    "type": "synonym"
                },
                {
                    "name": "srsf1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb52g10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb97g12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66146",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SXP4-1",
            "evidence": [
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NYA0-1",
            "uniprot_ac": "Q6NYA0",
            "uniprot_id": "SRS1B_DANRE",
            "refseq_ac": "NP_956887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 1B",
                    "type": "recommended"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1B",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1B",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor)",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srsf1b",
                    "type": "recommended"
                },
                {
                    "name": "sfrs1b",
                    "type": "synonym"
                },
                {
                    "name": "sfrs1",
                    "type": "synonym"
                },
                {
                    "name": "srsf1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb80g05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111894",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65898",
                    "type": "synonym"
                },
                {
                    "name": "zgc:76897",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NYA0-1",
            "evidence": [
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PDM2-1",
            "uniprot_ac": "Q6PDM2",
            "uniprot_id": "SRSF1_MOUSE",
            "refseq_ac": "NP_001071635",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 1",
                    "type": "recommended"
                },
                {
                    "name": "ASF/SF2",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-splicing factor SRp30a",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor SRp30a",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1 (ASF/SF2)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srsf1",
                    "type": "recommended"
                },
                {
                    "name": "1110054N12Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730507C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330415C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Asf",
                    "type": "synonym"
                },
                {
                    "name": "Sf2",
                    "type": "synonym"
                },
                {
                    "name": "Sfrs1",
                    "type": "synonym"
                },
                {
                    "name": "Srsf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PDM2-1",
            "evidence": [
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07955-1",
            "uniprot_ac": "Q07955",
            "uniprot_id": "SRSF1_HUMAN",
            "refseq_ac": "NP_001071634",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 1",
                    "type": "recommended"
                },
                {
                    "name": "ASF-1",
                    "type": "synonym"
                },
                {
                    "name": "Alternative-splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "SR splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1",
                    "type": "synonym"
                },
                {
                    "name": "alternative-splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor SF2, P33 subunit",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor 2",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich, 30-KD, A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRSF1",
                    "type": "recommended"
                },
                {
                    "name": "ASF",
                    "type": "synonym"
                },
                {
                    "name": "NEDFBA",
                    "type": "synonym"
                },
                {
                    "name": "SF2P33",
                    "type": "synonym"
                },
                {
                    "name": "SF2p33",
                    "type": "synonym"
                },
                {
                    "name": "SF2",
                    "type": "synonym"
                },
                {
                    "name": "SFRS1",
                    "type": "synonym"
                },
                {
                    "name": "SRSF1",
                    "type": "synonym"
                },
                {
                    "name": "SRp30a",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07955-1",
            "evidence": [
                {
                    "id": "620489",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620489"
                },
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01560-1",
            "uniprot_ac": "Q01560",
            "uniprot_id": "NOP3_YEAST",
            "refseq_ac": "NP_010720",
            "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": "Serine/arginine (SR)-type shuttling mRNA binding protein NPL3",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial targeting suppressor 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear polyadenylated RNA-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear protein localization protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylate-binding protein NPL3",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-binding protein NPL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPL3",
                    "type": "recommended"
                },
                {
                    "name": "D9461.19",
                    "type": "synonym"
                },
                {
                    "name": "MTR13",
                    "type": "synonym"
                },
                {
                    "name": "MTS1",
                    "type": "synonym"
                },
                {
                    "name": "NAB1",
                    "type": "synonym"
                },
                {
                    "name": "NOP3",
                    "type": "synonym"
                },
                {
                    "name": "NPL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01560-1",
            "evidence": [
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9L2-1",
            "uniprot_ac": "D4A9L2",
            "uniprot_id": "D4A9L2_RAT",
            "refseq_ac": "NP_001103022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/arginine-rich splicing factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srsf1",
                    "type": "recommended"
                },
                {
                    "name": "Sfrs1",
                    "type": "synonym"
                },
                {
                    "name": "Srsf1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9L2-1",
            "evidence": [
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3W7-1",
            "uniprot_ac": "Q9V3W7",
            "uniprot_id": "Q9V3W7_DROME",
            "refseq_ac": "NP_001247139",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6987-PB",
                    "type": "synonym"
                },
                {
                    "name": "SF2-PB",
                    "type": "synonym"
                },
                {
                    "name": "SRp30",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SF2",
                    "type": "recommended"
                },
                {
                    "name": "154911_at",
                    "type": "synonym"
                },
                {
                    "name": "ASF/SF2",
                    "type": "synonym"
                },
                {
                    "name": "ASF",
                    "type": "synonym"
                },
                {
                    "name": "CG6987",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6987",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6987",
                    "type": "synonym"
                },
                {
                    "name": "SF2",
                    "type": "synonym"
                },
                {
                    "name": "SRSF1",
                    "type": "synonym"
                },
                {
                    "name": "SRp30",
                    "type": "synonym"
                },
                {
                    "name": "Sf2",
                    "type": "synonym"
                },
                {
                    "name": "cg6987",
                    "type": "synonym"
                },
                {
                    "name": "dASF",
                    "type": "synonym"
                },
                {
                    "name": "dSF2/ASF",
                    "type": "synonym"
                },
                {
                    "name": "dSF2",
                    "type": "synonym"
                },
                {
                    "name": "dSRp30",
                    "type": "synonym"
                },
                {
                    "name": "dmSF2/p28",
                    "type": "synonym"
                },
                {
                    "name": "p28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3W7-1",
            "evidence": [
                {
                    "id": "0070513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070513"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070513"
}