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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:congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
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Accession:DOID:0112247 term browser browse the term
Definition:A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. (DO)
Synonyms:exact_synonym: CDK13-RELATED CONDITION;   CDK13-Related CHDFIDD;   CDK13-Related Disorder;   CHDFIDD
 primary_id: MIM:617360
 alt_id: DOID:9003115



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congenital heart defects, dysmorphic facial features, and intellectual developmental disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO
ISS
DNA:mutations: :
DNA:mutations:cds:
DNA:Mutations:cds :
OMIM:617360
ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
OMIM
MouseDO
ClinVar
RGD
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... RGD:11560583, RGD:155641229, RGD:155631311, RGD:155631312 NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        central nervous system disease 12558
          brain disease 11786
            disease of mental health 8365
              developmental disorder of mental health 5604
                specific developmental disorder 4597
                  intellectual disability 4378
                    congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
paths to the root