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Medical Subject Headings
Preferred Name | Aspartylglucosaminuria | |
Synonyms |
Deficiencies, AGA Deficiencies, Aspartylglucosamidase AGA Deficiencies Deficiency, Glycoasparaginase Aspartylglycosaminurias Deficiency, Aspartylglucosamidase Deficiency, AGA Glycoasparaginase Deficiency Deficiencies, Glycoasparaginase AGA Deficiency Aspartylglucosamidase Deficiency Glycoasparaginase Deficiencies Aspartylglucosamidase Deficiencies Aspartylglycosaminuria Aspartylglucosaminurias |
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Definitions |
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. |
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ID |
http://purl.bioontology.org/ontology/MESH/D054880 |
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altLabel |
Deficiencies, AGA Deficiencies, Aspartylglucosamidase AGA Deficiencies Deficiency, Glycoasparaginase Aspartylglycosaminurias Deficiency, Aspartylglucosamidase Deficiency, AGA Glycoasparaginase Deficiency Deficiencies, Glycoasparaginase AGA Deficiency Aspartylglucosamidase Deficiency Glycoasparaginase Deficiencies Aspartylglucosamidase Deficiencies Aspartylglycosaminuria Aspartylglucosaminurias
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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
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cui |
C0268225
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DC |
1
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definition |
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.
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DX |
20090101
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HN |
2009
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Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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Machine permutation |
2009
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Mapped from | ||
MDA |
20080708
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MMR |
20180614
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MN |
C16.320.565.595.100 C18.452.648.595.100
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notation |
D054880
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prefLabel |
Aspartylglucosaminuria
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TERMUI |
T710290 T840926 T000942663 T843519 T695228
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TH |
OMIM (2013) NLM (2009) NLM (2008) NLM (2019) GHR (2014) ORD (2010)
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tui |
T047
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subClassOf |
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