immunodeficiency-centromeric instability-facial anomalies syndrome

Term ID

DOID:0090007

Synonyms

ICF syndrome

Definition

A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (2)

References

ICD10CM:D84.8
OMIM:PS242860
ORDO:2268

Ontology

Human Disease ( DOID:0090007 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome 4

immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations