Human Disease Ontology 123

Last uploaded: September 28, 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

ORDO:79213

OMIM:PS607014

GARD:7065

SNOMEDCT_US_2022_09_01:267452003

ICD9CM:277.5

ICD10CM:E76.3

MESH:D009083

UMLS_CUI:C0026703

NCI:C61259

definition

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

has_alternative_id

DOID:14716

has_obo_namespace

disease_ontology

id

DOID:12798

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

mucopolysaccharidosis

notation

DOID:12798

prefLabel

mucopolysaccharidosis

subClassOf

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

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259 National Cancer Institute Thesaurus LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.3 International Classification of Diseases, 11th Edition, China LOOM