BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

mucopolysaccharidosis

Definitions

Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

ID

http://purl.obolibrary.org/obo/DOID_12798

comment

Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

database_cross_reference

SNOMEDCT_US_2020_03_01:267452003

ORDO:79213

OMIM:PS607014

GARD:7065

OMIM:252700

ICD9CM:277.5

ICD10CM:E76.3

MESH:D009083

UMLS_CUI:C0026703

NCI:C61259

has_alternative_id

DOID:14716

id

DOID:12798

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

mucopolysaccharidosis

notation

DOID:12798

prefLabel

mucopolysaccharidosis

textual definition

A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_3211

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