Cardiac, Facial, and Digital Anomalies with Developmental Delay

Preferred Label : Cardiac, Facial, and Digital Anomalies with Developmental Delay;

NCIt synonyms : TRAF7 Syndrome; CAFDADD;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies.;

NCI Metathesaurus CUI : CL967494;

Details

Origin ID

C179868;

UMLS CUI

C4748484;

Currated CISMeF NLP mapping
- Cardiac, facial, and digital anomalies with developmental delay [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac, facial, and digital anomalies with developmental delay [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TRAF7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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