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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Aspartylglucosaminuria | |
| Synonyms |
AGU |
|
| Definitions |
(AGU) - An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. |
|
| ID |
http://identifiers.org/omim/208400 |
|
| altLabel |
AGU
|
|
| definition |
(AGU) - An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.
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|
| id |
OMIM:208400
|
|
| notation |
OMIM:208400
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|
| prefLabel |
Aspartylglucosaminuria
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| subClassOf |
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