Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
Synonyms:
Cernunnos XLFD
NHEJ1 deficiency
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-10:D81.1 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
- OMIM:611291 (E (Exact mapping: the two concepts are equivalent))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079
hasDbXref
- ICD-10:D81.1
- OMIM:611291
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409945
- http://www.orpha.net/ORDO/Orphanet_409944
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409979
notation
- ORPHA:169079
part of
- http://www.orpha.net/ORDO/Orphanet_480549
- http://www.orpha.net/ORDO/Orphanet_183422
present in
- http://www.orpha.net/ORDO/Orphanet_409991
Term relations
Subclass of: