{
    "disease_id": "DOID:0111331",
    "recommended_name": {
        "id": "DOID:0111331",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111331",
        "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome",
        "description": "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111331",
            "name": "FOXP1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111331",
            "name": "Mental retardation with language impairment and with or without autistic features",
            "description": ""
        },
        {
            "id": "DOID:0111331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111331",
            "name": "FOXP1 Haploinsufficiency",
            "description": ""
        },
        {
            "id": "DOID:0111331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111331",
            "name": "FOXP1-Related Neurodevelopmental Disorder",
            "description": ""
        },
        {
            "id": "DOID:0111331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111331",
            "name": "intellectual developmental disorder with language impairment and with or without autistic features",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome",
            "description": "An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family)."
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "FOXP1 haploinsufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "FOXP1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "FOXP1-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "FOXP1 related global developmental delay, intellectual disability and speech defects",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "intellectual disability with language impairment and with or without autistic features",
            "description": ""
        },
        {
            "id": "MONDO:0013352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "name": "mental retardation with language impairment and with or without autistic features",
            "description": ""
        },
        {
            "id": "MIM:613670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613670",
            "name": "Intellectual developmental disorder with language impairment and with or without autistic features",
            "description": "Intellectual developmental disorder with language impairment and with or without autistic features"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111331"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111331",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111331",
            "categories": []
        },
        {
            "id": "MONDO:0013352",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013352",
            "categories": []
        },
        {
            "id": "MIM:613670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7V4-1",
            "uniprot_ac": "A0ACD6B7V4",
            "uniprot_id": "A0ACD6B7V4_DANRE",
            "refseq_ac": "XP_005162016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein P1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein P1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxp1a",
                    "type": "recommended"
                },
                {
                    "name": "foxp1a",
                    "type": "synonym"
                },
                {
                    "name": "im:7146611",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb97f01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154010",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7V4-1",
            "evidence": [
                {
                    "id": "0111331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2LE08-1",
            "uniprot_ac": "Q2LE08",
            "uniprot_id": "FXP1B_DANRE",
            "refseq_ac": "NP_001034726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein P1-B",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box P1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein P1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxp1b",
                    "type": "recommended"
                },
                {
                    "name": "foxp1b",
                    "type": "synonym"
                },
                {
                    "name": "foxp1",
                    "type": "synonym"
                },
                {
                    "name": "im:7139058",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc83a06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2LE08-1",
            "evidence": [
                {
                    "id": "0111331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58462-1",
            "uniprot_ac": "P58462",
            "uniprot_id": "FOXP1_MOUSE",
            "refseq_ac": "NP_001184250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein P1",
                    "type": "recommended"
                },
                {
                    "name": "Forkhead-related transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein P1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein P1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxp1",
                    "type": "recommended"
                },
                {
                    "name": "3110052D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932443N09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Foxp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P58462-1",
            "evidence": [
                {
                    "id": "0111331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H334-1",
            "uniprot_ac": "Q9H334",
            "uniprot_id": "FOXP1_HUMAN",
            "refseq_ac": "NP_001012523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein P1",
                    "type": "recommended"
                },
                {
                    "name": "MFH",
                    "type": "synonym"
                },
                {
                    "name": "Mac-1-regulated forkhead",
                    "type": "synonym"
                },
                {
                    "name": "fork head-related protein like B",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein P1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "glutamine-rich factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mac-1-regulated forkhead",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXP1",
                    "type": "recommended"
                },
                {
                    "name": "12CC4",
                    "type": "synonym"
                },
                {
                    "name": "FOXP1",
                    "type": "synonym"
                },
                {
                    "name": "HSPC215",
                    "type": "synonym"
                },
                {
                    "name": "MFH",
                    "type": "synonym"
                },
                {
                    "name": "QRF1",
                    "type": "synonym"
                },
                {
                    "name": "hFKH1B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H334-1",
            "evidence": [
                {
                    "id": "613670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613670"
                },
                {
                    "id": "0111331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q498D1-1",
            "uniprot_ac": "Q498D1",
            "uniprot_id": "FOXP1_RAT",
            "refseq_ac": "NP_001029303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein P1",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box protein P1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxp1",
                    "type": "recommended"
                },
                {
                    "name": "Foxp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q498D1-1",
            "evidence": [
                {
                    "id": "0111331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K6N2-1",
            "uniprot_ac": "A0A0B4K6N2",
            "uniprot_id": "A0A0B4K6N2_DROME",
            "refseq_ac": "NP_001247011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43067-PC",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead box P, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "FoxP-PC",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box P, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box P",
                    "type": "synonym"
                },
                {
                    "name": "forkhead domain 85E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FoxP",
                    "type": "recommended"
                },
                {
                    "name": "CG16899",
                    "type": "synonym"
                },
                {
                    "name": "CG32937",
                    "type": "synonym"
                },
                {
                    "name": "CG43067",
                    "type": "synonym"
                },
                {
                    "name": "DmFoxP",
                    "type": "synonym"
                },
                {
                    "name": "Dmcg16899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43067",
                    "type": "synonym"
                },
                {
                    "name": "FoxP",
                    "type": "synonym"
                },
                {
                    "name": "dFoxP",
                    "type": "synonym"
                },
                {
                    "name": "fd85E",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K6N2-1",
            "evidence": [
                {
                    "id": "0111331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111331"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111331"
}