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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:Snijders Blok-Campeau Syndrome
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Accession:DOID:9001540 term browser browse the term
Definition:Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable. SNIBCPS is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. (OMIM)
Synonyms:exact_synonym: CHD3-RELATED DISORDER;   SNIBCPS
 primary_id: OMIM:618205
For additional species annotation, visit the Alliance of Genome Resources.


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Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: SNIJDERS BLOK-CAMPEAU SYNDROME
ClinVar Annotator: match by term: CHD3-Related Disorder
OMIM
ClinVar
PMID:25741868, PMID:29463886, PMID:30397230, PMID:31048695 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Language Development Disorders 133
        Snijders Blok-Campeau Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  communication disorder 293
                    language disorder 206
                      Language Development Disorders 133
                        Snijders Blok-Campeau Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.