FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

mucopolysaccharidosis IV
Synonyms
Definitions

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
ID

http://purl.obolibrary.org/obo/DOID_12804
definition

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
imported from

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

mucopolysaccharidosis IV
prefixIRI

DOID:12804
prefLabel

mucopolysaccharidosis IV
subClassOf

http://purl.obolibrary.org/obo/DOID_12798
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12804 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12804 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_12804 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12804 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12804 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12804 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12804 DOID LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028095 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.600.655 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.715.655 RH-MESH LOOM
http://purl.jp/bio/4/id/200906010311043589 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D009085 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.715.655 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.600.655 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12804 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.550.575.655 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036693 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009085 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0010126 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_12804 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12804 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12804 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12804 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12804 NIFSTD LOOM