Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	sialuria
Definitions	A lysosomal storage disease characterized by increased sialic acid in the urine. OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
ID	http://purl.obolibrary.org/obo/DOID_3659
comment	OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference	MESH:D029461 OMIM:604369 SNOMEDCT_US_2022_09_01:238051008 OMIM:269921 UMLS_CUI:C0342853 NCI:C85067
definition	A lysosomal storage disease characterized by increased sialic acid in the urine.
has_obo_namespace	disease_ontology
id	DOID:3659
in_subset	http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	sialuria
notation	DOID:3659
prefLabel	sialuria
subClassOf	http://purl.obolibrary.org/obo/DOID_3211

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/269921	Online Mendelian Inheritance in Man	LOOM