Search on: ACATALASIA 
Descriptors Found: 1
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Descriptor English:   Acatalasia 
Descriptor Spanish:   Acatalasia 
Descriptor Portuguese:   Acatalasia 
Synonyms English:   Acatalasemia
Acatalasemia Japanese Type
Acatalasemia Swiss Type
Catalase Deficiencies
Catalase Deficiency
Deficiencies, Catalase
Deficiency, Catalase
Disease, Takahara
Disease, Takahara's
Hypocatalasemia
Hypocatalasia
Japanese Type, Acatalasemia
Swiss Type, Acatalasemia
Takahara Disease
Takahara's Disease
Takaharas Disease  
Tree Number:   C16.320.565.663.050
C18.452.648.663.050
Definition English:   A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. 
History Note English:   2000 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
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:   34377 
Unique Identifier:   D020642 

Occurrence in VHL:
 

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