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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:Cardiac, Facial, and Digital Anomalies with Developmental Delay
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Accession:DOID:9002555 term browser browse the term
Synonyms:exact_synonym: CAFDADD;   TRAF7-RELATED DEVELOPMENTAL DELAY, CONGENITAL ANOMALIES, AND DYSMORPHIC FEATURES
 primary_id: OMIM:618164
For additional species annotation, visit the Alliance of Genome Resources.


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Cardiac, Facial, and Digital Anomalies with Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:25741868, PMID:25961944, PMID:29961569 NCBI chr10:13,874,444...13,893,090
Ensembl chr10:13,874,456...13,892,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Multiple Abnormalities 1738
            Cardiac, Facial, and Digital Anomalies with Developmental Delay 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.