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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
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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;   IDDLA;   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
 xref: EFO:1001500;   GARD:12501;   MIM:613670;   MONDO:0013352;   ORDO:391372



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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 ISO ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment AND with or without autistic features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome OMIM
ClinVar
PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 More... NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Language Development Disorders 74
        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  communication disorder 421
                    language disorder 172
                      Language Development Disorders 74
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
paths to the root