OBO ID: DOID:0090010
Term Name: immunodeficiency-centromeric instability-facial anomalies syndrome 3 Search Ontology:
Synonyms:
  • ICF syndrome 3
Definition: An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/26216346
References:
Ontology: Human Disease   ( DOID:0090010 )
Relationships
is a type of:
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 616910
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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