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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:NEUROCARDIOFACIODIGITAL SYNDROME
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Accession:DOID:9004830 term browser browse the term
Definition:This disease is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies.
Synonyms:exact_synonym: NCFD
 primary_id: OMIM:619869


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NEUROCARDIOFACIODIGITAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk5 MAPK activated protein kinase 5 ISO ClinVar Annotator: match by term: Neurocardiofaciodigital syndrome OMIM
ClinVar		 PMID:25741868 PMID:33442026 PMID:35575217 PMID:36581449 NCBI chr12:34,993,520...35,013,059
Ensembl chr12:34,994,092...35,013,052 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Multiple Abnormalities 3680
            NEUROCARDIOFACIODIGITAL SYNDROME 1
paths to the root