Search on: GATA2 HAPLOINSUFFICIENCY 
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Descriptor English:   GATA2 Deficiency 
Descriptor Spanish:   deficiencia de GATA2 
Descriptor Portuguese:   Deficiência de GATA2 
Synonyms English:   Emberger Syndrome
GATA2 Deficiencies
GATA2 Haploinsufficiencies
GATA2 Haploinsufficiency
Immunodeficiency type 21
MonoMac Syndrome
MonoMac Syndromes
Myelodysplastic Syndrome Acute Myeloid Leukemia
Natural Killer Cell Deficiency
Primary Lymphedema with Myelodysplasia  
Tree Number:   C16.320.314
Definition English:   A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system. 
History Note English:   2019 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DF deficiency
DI diagnosis DG diagnostic imaging
DH diet therapy DT drug therapy
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   57644 
Unique Identifier:   D000077428 

Occurrence in VHL:
 

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