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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_12798
http://purl.obolibrary.org/obo/DOID_12798
|
|---|---|
| Preferred Name | mucopolysaccharidosis |
| Definitions |
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
Xref MGI.
OMIM mapping submitted by NeuroDevNet. [LS].
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
mucopolysaccharidosis
|
|---|---|
| comment |
Xref MGI.
OMIM mapping submitted by NeuroDevNet. [LS].
|
| prefLabel |
mucopolysaccharidosis
|
| has cross-reference |
ICD9CM:277.5
ICD10CM:E76.3
MESH:D009083
UMLS_CUI:C0026703
OMIM:PS607014
OMIM:252700
SNOMEDCT_US_2020_03_01:267452003
GARD:7065
NCI:C61259
ORDO:79213
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|
| notation |
DOID:12798
|
| in_subset | |
| id |
DOID:12798
|
| has_obo_namespace |
disease_ontology
|
| textual definition |
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
|
| subClassOf | |
| imported from | |
| has_alternative_id |
DOID:14716
|
| type |
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