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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 CDK13 on chromosome 7p14.1. (DO)
Synonyms:exact_synonym: CDK13-Related CHDFIDD;   CDK13-Related Disorder;   CHDFIDD
 primary_id: OMIM:617360
 alt_id: DOID:9003115
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
ClinVar
OMIM
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28554332 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
paths to the root