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Aspartylglucosaminuria

Go to external page http://purl.bioontology.org/ontology/MESH/D054880

A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.

Instance info

Synonyms

Aspartylglucosaminurie (DE), AGA Deficiencies, Deficiencies, AGA, Glycoasparaginase Deficiency, AGA Deficiency, Deficiency, Aspartylglucosamidase, Deficiency, Glycoasparaginase, Aspartylglucosamidase Deficiencies, Aspartylglycosaminurias, Deficiency, AGA, Aspartylglycosaminuria, Aspartylglucosamidase Deficiency, Glycoasparaginase Deficiencies, Aspartylglucosaminurias, Deficiencies, Aspartylglucosamidase, Deficiencies, Glycoasparaginase

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

20090101

HN

2009

MDA

20080708

MMR

20180614

MN

C18.452.648.595.100,C16.320.565.595.100

PM

2009

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/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,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/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,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/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,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/D020140,http://purl.bioontology.org/ontology/MESH/D044904,http://purl.bioontology.org/ontology/MESH/D015217,http://purl.bioontology.org/ontology/MESH/D003554,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D009083

TERMUI

T000942663,T840926,T843519,T695228,T710290

TH

NLM (2019),NLM (2008),GHR (2014),ORD (2010),NLM (2009),OMIM (2013)

cui

C0268225

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C538402

tui

T047

Instance relations

Types