You are using an outdated browser. Please upgrade your browser to improve your experience.

primary immunodeficiency syndrome due to p14 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
Uniprot Description This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.
Mondo Term and Equivalent IDs
MONDO:0012559:  primary immunodeficiency syndrome due to p14 deficiency
MESH:C563663: 
Orphanet:90023: 
SCTID:718717004: 
UMLS:C1835829: 
UMLS:C4305256: