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immunodeficiency-centromeric instability-facial anomalies syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0000133

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. [ Orphanet:2268 ]

Synonyms: immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency-centromeric instability-facial anomalies

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:242860 (MONDO:equivalentTo)
  • GARD:2945 (Orphanet:2268)
  • SCTID:234633000 (MONDO:equivalentTo)
  • Orphanet:2268 (MONDO:equivalentTo)
  • UMLS:C0398788 (MONDO:equivalentTo)
  • DOID:0090007 (MONDO:equivalentTo)
  • MESH:C537362 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C0398788

http://identifiers.org/snomedct/234633000

http://www.orpha.net/ORDO/Orphanet_2268

http://purl.obolibrary.org/obo/DOID_0090007

http://identifiers.org/mesh/C537362

https://omim.org/phenotypicSeries/PS242860

has related synonym

CIID

ICF syndrome

id

MONDO:0000133

Term relations