{ "disease_id": "DOID:0111331", "recommended_name": { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0111331", "name": "FOXP1 syndrome", "description": "" }, { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0111331", "name": "FOXP1 Haploinsufficiency", "description": "" }, { "id": "DOID:0111331", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111331", "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": "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects 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 anddelatyed 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). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." }, { "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": "http://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": "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; FoxP-PC; forkhead box P; forkhead domain 85E", "resource": "RefSeq", "type": "synonym" }, { "name": "Forkhead box P, isoform C", "resource": "UniProtKB", "type": "synonym" }, { "name": "forkhead box P, isoform C", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FoxP", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG16899; CG32937; CG43067; dFoxP; Dmcg16899; Dmel\\CG43067; DmFoxP; fd85E", "resource": "RefSeq", "type": "synonym" }, { "name": "CG16899", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG32937", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG43067", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmFoxP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmcg16899", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG43067", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG43067", "resource": "UniProtKB", "type": "synonym" }, { "name": "FoxP", "resource": "RefSeq", "type": "synonym" }, { "name": "dFoxP", "resource": "UniProtKB", "type": "synonym" }, { "name": "fd85E", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "Forkhead-related transcription factor 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "forkhead box protein P1 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "forkhead box protein P1; forkhead-related transcription factor 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Foxp1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3110052D19Rik; 4932443N09Rik", "resource": "RefSeq", "type": "synonym" }, { "name": "Foxp1a", "resource": "UniProtKB", "type": "synonym" }, { "name": "Foxp1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ] }, { "uniprot_canonical_ac": "Q9H334-1", "uniprot_ac": "Q9H334", "uniprot_id": "FOXP1_HUMAN", "refseq_ac": "NP_001231744", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "MFH", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mac-1-regulated forkhead", "resource": "UniProtKB", "type": "synonym" }, { "name": "fork head-related protein like B; glutamine-rich factor 1; mac-1-regulated forkhead", "resource": "RefSeq", "type": "synonym" }, { "name": "forkhead box protein P1 isoform f", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FOXP1", "resource": "UniProtKB", "type": "recommended" }, { "name": "12CC4; hFKH1B; HSPC215; MFH; QRF1", "resource": "RefSeq", "type": "synonym" }, { "name": "FOXP1", "resource": "RefSeq", "type": "synonym" }, { "name": "HSPC215", "resource": "UniProtKB", "type": "synonym" }, { "name": "hCG_1778483", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111331" }, { "id": "613670", "database": "MIM", "url": "https://www.omim.org/entry/613670" } ] }, { "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "forkhead box P1", "resource": "RefSeq", "type": "synonym" }, { "name": "forkhead box protein P1-B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "foxp1b", "resource": "UniProtKB", "type": "recommended" }, { "name": "foxp1; im:7139058; wu:fc83a06", "resource": "RefSeq", "type": "synonym" }, { "name": "foxp1b", "resource": "RefSeq", "type": "synonym" }, { "name": "foxp1", "resource": "UniProtKB", "type": "synonym" }, { "name": "im:7139058", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fc83a06", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ] }, { "uniprot_canonical_ac": "A0A2R8Q1R5-1", "uniprot_ac": "A0A2R8Q1R5", "uniprot_id": "A0A2R8Q1R5_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 P1a", "resource": "UniProtKB", "type": "synonym" }, { "name": "Forkhead box protein P1a isoform X1", "resource": "UniProtKB", "type": "synonym" }, { "name": "forkhead box protein P1a isoform X1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "foxp1a", "resource": "UniProtKB", "type": "recommended" }, { "name": "foxp1a", "resource": "RefSeq", "type": "synonym" }, { "name": "im:7146611; wu:fb97f01; zgc:154010", "resource": "RefSeq", "type": "synonym" }, { "name": "im:7146611", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fb97f01", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:154010", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "forkhead box protein P1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Foxp1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Foxp1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111331", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0111331" }