Experimental Factor Ontology

Last uploaded: June 18, 2024
Jump to:
loading...
Preferred Name

fucosidosis
Synonyms

fucosidosis

A-fucosidase deficiency

alpha fucosidase deficiency

Alpha-L-fucosidase deficiency

lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Definitions

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
ID

http://purl.obolibrary.org/obo/MONDO_0009254
database_cross_reference

MESH:D005645

OMIM:230000

Orphanet:349

NANDO:2200553

UMLS:C0016788

NANDO:1200130

NCIT:C61274

SCTID:64716005

DOID:14500

GARD:6473

ICD9:271.8

NORD:1168
definition

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
exactMatch

http://purl.obolibrary.org/obo/NCIT_C61274

https://omim.org/entry/230000

http://purl.obolibrary.org/obo/Orphanet_349

http://purl.obolibrary.org/obo/DOID_14500

http://identifiers.org/mesh/D005645

http://identifiers.org/snomedct/64716005

http://linkedlifedata.com/resource/umls/id/C0016788
has_exact_synonym

fucosidosis

A-fucosidase deficiency

alpha fucosidase deficiency

Alpha-L-fucosidase deficiency
has_related_synonym

lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948
id

MONDO:0009254
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease
label

fucosidosis
notation

MONDO:0009254
prefLabel

fucosidosis
see also

https://rarediseases.info.nih.gov/diseases/6473/fucosidosis
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019251

http://purl.obolibrary.org/obo/MONDO_0800088
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0009254 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009254 DOVES 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 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 BAO 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