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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:Coffin-Siris syndrome 9
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Accession:DOID:0070057 term browser browse the term
Definition:An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. (DO)
Synonyms:exact_synonym: CSS9;   IDDMOH;   INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 27;   MRD27;   autosomal dominant mental retardation 27;   autosomal dominant non-syndromic intellectual disability 27;   intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
 primary_id: OMIM:615866


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Coffin-Siris syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Coffin-Siris syndrome 18
        Coffin-Siris syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    autosomal dominant intellectual developmental disorder 447
                      Coffin-Siris syndrome 18
                        Coffin-Siris syndrome 9 1
paths to the root