BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

aspartylglucosaminuria

Synonyms

aspartylglycosaminuria

Definitions

OMIM mapping confirmed by DO. [SN]. A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.

ID

http://purl.obolibrary.org/obo/DOID_0050461

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:208400

ICD10CM:E77.1

SNOMEDCT_US_2020_03_01:54954004

UMLS_CUI:C0268225

MESH:D054880

GARD:5854

NCI:C61273

has exact match

MESH:D054880

has exact synonym

aspartylglycosaminuria

aspartylglucosaminidase deficiency

glycosylasparaginase deficiency

has_obo_namespace

disease_ontology

id

DOID:0050461

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

aspartylglucosaminuria

notation

DOID:0050461

prefLabel

aspartylglucosaminuria

textual definition

A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.

subClassOf

http://purl.obolibrary.org/obo/DOID_630

http://purl.obolibrary.org/obo/DOID_3211

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050461 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050461 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050461 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050461 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050461 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050461 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050461 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008830 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200555 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200133 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
rgo:13272 GAMUTS LOOM
rgo:13272 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_93 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050461 NATPRO LOOM
http://identifiers.org/omim/208400 REXO LOOM
http://identifiers.org/omim/208400 GEXO LOOM
http://identifiers.org/omim/208400 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/C31y700 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/208400 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D054880 MESH LOOM
http://id.nlm.nih.gov/mesh/D054880 MDM LOOM
http://www.gamuts.net/entity#aspartylglucosaminuria GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-72500 SNMI LOOM
http://www.limics.org/hrdo/rdfns#pat_id_5 HRDO LOOM
http://purl.jp/bio/4/id/200906071764804008 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Aspartylglucosaminuria BDO LOOM
http://purl.obolibrary.org/obo/OMIM_208400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050461 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050461 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0026074 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014368 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054880 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068220 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/C31y7 RCD LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/HP_0012068 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 CHIRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15068 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268225 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.100 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085274 PMAPP-PMO LOOM

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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