Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:intellectual disability-severe speech delay-mild dysmorphism syndrome
go back to main search page
Accession:DOID:0111331 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: FOXP1 Haploinsufficiency;   FOXP1 syndrome;   FOXP1-RELATED CONDITION;   FOXP1-Related Neurodevelopmental Disorder;   intellectual developmental disorder with language impairment and with or without autistic features;   intellectual disability with language impairment;   mental retardation with language impairment and with or without autistic features
 narrow_synonym: INTELLECTUAL DISABILITY WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES;   MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
 primary_id: OMIM:613670
 xref: EFO:1001500;   GARD:12501;   ORDO:391372


show annotations for term's descendants           Sort by:
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 IAGP
EXP		 ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome
ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features
ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 More... NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G LOC110120812 VISTA enhancer hs965 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome ClinVar PMID:24214399 NCBI chr 3:71,050,006...71,051,700 JBrowse link
G LOC110120986 VISTA enhancer hs1092 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome ClinVar PMID:24214399 NCBI chr 3:71,104,405...71,105,902 JBrowse link
G LOC121009679 Sharpr-MPRA regulatory region 11865 IAGP ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features ClinVar NCBI chr 3:71,583,918...71,584,212 JBrowse link
G LOC126806714 BRD4-independent group 4 enhancer GRCh37_chr3:71025197-71026396 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome
ClinVar Annotator: match by term: FOXP1-related condition		 ClinVar PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:28735298 More... NCBI chr 3:70,976,046...70,977,245 JBrowse link
G LOC129937017 ATAC-STARR-seq lymphoblastoid active region 20059 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome ClinVar PMID:24214399
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Language Development Disorders 83
        intellectual disability-severe speech delay-mild dysmorphism syndrome 6
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  communication disorder 605
                    language disorder 221
                      Language Development Disorders 83
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 6
paths to the root