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Acatalasia

Go to external page http://purl.bioontology.org/ontology/MESH/D020642

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.

Instance info

Synonyms

Deficiencies, Catalase, Hypocatalasia, Takahara-Krankheit (DE), Disease, Takahara, Akatalasämie (DE), Acatalasemia Swiss Type, Disease, Takahara's, Hypocatalasemia, Takahara Disease, Acatalasemia, Akatalasie (DE), Acatalasemia Japanese Type, Takahara's Disease, Takaharas Disease, Japanese Type, Acatalasemia, Deficiency, Catalase, Catalase Deficiency, Catalase Deficiencies, Swiss Type, Acatalasemia, Hypokatalasämie (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20000101

HN

2000

MDA

19991103

MMR

20150608

MN

C16.320.565.663.050,C18.452.648.663.050

PM

2000

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D012035,http://purl.bioontology.org/ontology/MESH/D018902,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D052919,http://purl.bioontology.org/ontology/MESH/D054078,http://purl.bioontology.org/ontology/MESH/D000326

TERMUI

T364495,T782906,T364494,T364493,T782904,T782905,T364492,T358366,T364496

TH

ORD (2010),OMIM (2013),NLM (2000),NLM (2012)

cui

C2931868,C0268419,C0752048,C2936847,C2936848

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Instance relations

Types