Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

mucopolysaccharidosis
Synonyms
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].
ID

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

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

SNOMEDCT_US_2023_03_01:267452003

ICD9CM:277.5

ICD10CM:E76.3

MESH:D009083

UMLS_CUI:C0026703

MIM:PS607014

GARD:7065

NCI:C61259

ORDO:79213
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#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
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://purl.obolibrary.org/obo/DOID_12798 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 FNS-H SAME_URI
http://www.owl-ontologies.com/NPOntology.owl#DOID_12798 NATPRO LOOM
http://www.co-ode.org/ontologies/galen#Mucopolysaccharidosis GALEN LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/11380006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028093 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_12798 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12798 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12798 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12798 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12798 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12798 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12798 FNS-H LOOM
http://purl.bioontology.org/ontology/LNC/LP438367-7 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11239 HRDO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU069820 LOINC LOOM
http://purl.bioontology.org/ontology/CSP/1849-6106 CRISP LOOM
http://purl.bioontology.org/ontology/RCD/XE11o RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C61259 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026703 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0002677 DERMO LOOM
http://www.radlex.org/RID/RID34619 RADLEX LOOM
http://www.orpha.net/ORDO/Orphanet_79213 ORDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Mucopolysaccharidosis PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/C375.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.5 ICD9CM LOOM
http://radlex.org/RID/RID34619 RADLEX LOOM
rgo:08693 GAMUTS LOOM
http://www.gamuts.net/entity#mucopolysaccharidosis GAMUTS REST