Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	fucosidosis
Synonyms	alpha fucosidase deficiency
Definitions	OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_14500
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	SNOMEDCT_US_2022_09_01:64716005 MESH:D005645 NCI:C61274 UMLS_CUI:C0016788 ICD10CM:E77.1 GARD:6473 OMIM:230000
has exact synonym	alpha fucosidase deficiency A-fucosidase deficiency
has_obo_namespace	disease_ontology
id	DOID:14500
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	fucosidosis
notation	DOID:14500
prefLabel	fucosidosis
subClassOf	http://purl.obolibrary.org/obo/DOID_3211

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D005645	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/OMIM/230000	Online Mendelian Inheritance in Man	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61274	National Cancer Institute Thesaurus	LOOM