Search Ontology:
Human Disease

immunodeficiency-centromeric instability-facial anomalies syndrome 3

Term ID
DOID:0090010
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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