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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 FOXP1 on chromosome 3p13. (DO)
Synonyms:exact_synonym: FOXP1 syndrome;   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
 alt_id: RDO:0009934
 xref: GARD:12501;   ORDO:391372
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:613670
ClinVar Annotator: match by term: Mental retardation with language impairment and with or without autistic features
OMIM
ClinVar
PMID:20950788 PMID:24214399 PMID:25131622 PMID:25326635 PMID:25363768 PMID:25741868 PMID:26647308 PMID:27657687 PMID:27824329 PMID:28492532 PMID:28708303 PMID:28741757 PMID:28884888 PMID:30385778 PMID:31199603 PMID:31474318 PMID:32860008 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Language Development Disorders 72
        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  communication disorder 203
                    language disorder 122
                      Language Development Disorders 72
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
paths to the root