BioAssay Ontology

Last uploaded: February 21, 2024
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

MESH:D005645

OMIM:230000

SNOMEDCT_US_2020_03_01:64716005

UMLS_CUI:C0016788

ICD10CM:E77.1

GARD:6473

NCI:C61274

has exact synonym

alpha fucosidase deficiency

A-fucosidase deficiency

has_obo_namespace

disease_ontology

id

DOID:14500

imported from

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

in_subset

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

label

fucosidosis

notation

DOID:14500

prefLabel

fucosidosis

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14500 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14500 FNS-H SAME_URI
rgo:29392 GAMUTS LOOM
rgo:29392 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_14500 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14500 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009254 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009254 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200553 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200130 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_14500 DOID LOOM
http://purl.bioontology.org/ontology/RCTV2/C31y100 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C31y1 RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C61274 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_349 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036657 PMAPP-PMO LOOM
http://identifiers.org/omim/230000 REXO LOOM
http://identifiers.org/omim/230000 GEXO LOOM
http://identifiers.org/omim/230000 RETO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13 HRDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Fucosidosis PEDTERM LOOM
http://purl.jp/bio/4/id/200906090563818161 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_14500 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14500 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14500 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14500 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/230000 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.295 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009254 DOVES LOOM
http://www.gamuts.net/entity#fucosidosis GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.303 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000523 DERMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64716005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.295 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.295 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15122 DERMLEX LOOM
http://purl.bioontology.org/ontology/CSP/1849-8519 CRISP LOOM
http://purl.obolibrary.org/obo/OMIT_0006847 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14500 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D005645 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.295 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.295 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fucosidosis CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61274 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_230000 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.303 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.295 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Fucosidosis BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005645 RH-MESH 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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Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

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