FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

alpha-mannosidosis
Synonyms
Definitions

A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
ID

http://purl.obolibrary.org/obo/DOID_3413
definition

A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
imported from

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

alpha-mannosidosis
prefixIRI

DOID:3413
prefLabel

alpha-mannosidosis
subClassOf

http://purl.obolibrary.org/obo/DOID_3211
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3413 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3413 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3413 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3413 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3413 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3413 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3413 NIFSTD SAME_URI
http://nanbyodata.jp/ontology/NANDO_1200126 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_3413 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009561 EFO LOOM
rgo:32938 GAMUTS LOOM
rgo:32938 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_3413 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009561 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009561 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.577.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.607.500 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D008363 MDM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7733 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.607.500 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#alpha-Mannosidosis BDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3 HRDO LOOM
http://purl.obolibrary.org/obo/OMIT_0009435 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.577.500 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_61 ORDO LOOM
http://purl.jp/bio/4/id/200906047031658465 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84548 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008363 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D008363 MESH LOOM
http://www.gamuts.net/entity#alpha_mannosidosis GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083855 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036687 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C84548 BERO LOOM
http://purl.obolibrary.org/obo/DOID_3413 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3413 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3413 NIFSTD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alpha-Mannosidosis CSEO LOOM