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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | aspartylglucosaminuria | |
| Synonyms |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency |
|
| Definitions |
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050461 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency
|
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:54954004 OMIM:208400 ICD10CM:E77.1 UMLS_CUI:C0268225 MESH:D054880 GARD:5854 NCI:C61273
|
|
| definition |
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. OMIM mapping confirmed by DO. [SN].
|
|
| disease has basis in | ||
| has close match |
MESH:D054880
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|
| has exact match |
MESH:D054880
|
|
| has exact synonym |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0050461
|
|
| in_subset | ||
| label |
aspartylglucosaminuria
|
|
| notation |
DOID:0050461
|
|
| note |
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
aspartylglucosaminuria
|
|
| prefLabel |
aspartylglucosaminuria
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|
| subClassOf |
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