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loading...| Preferred Name |
glycoproteinosis |
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| Synonyms |
sialidosis |
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| Definitions |
OMIM mapping submitted by NeuroDevNet. [LS]. A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
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| ID |
http://purl.obolibrary.org/obo/DOID_3343 |
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| comment |
OMIM mapping submitted by NeuroDevNet. [LS]. |
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| database_cross_reference |
OMIM:256550 SNOMEDCT_US_2023_03_01:70528007 MESH:D009081 UMLS_CUI:C0026697 GARD:10670 NCI:C61267 |
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| has exact synonym |
sialidosis Mucolipidosis type I |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:3343 |
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| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
glycoproteinosis |
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| notation |
DOID:3343 |
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| prefLabel |
glycoproteinosis |
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| textual definition |
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
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| subClassOf |
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