Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

FUCOSIDOSIS
Synonyms

ALPHA-L-FUCOSIDASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/230000
altLabel

ALPHA-L-FUCOSIDASE DEFICIENCY
cui

C0016788
Gene Locus

1p34
Gene Symbol

FUCA1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU008095

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU001816

http://purl.bioontology.org/ontology/OMIM/MTHU005213

http://purl.bioontology.org/ontology/OMIM/MTHU012938

http://purl.bioontology.org/ontology/OMIM/MTHU012922

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU012927

http://purl.bioontology.org/ontology/OMIM/MTHU001099

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU012928

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU012937

http://purl.bioontology.org/ontology/OMIM/MTHU004559

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU012924

http://purl.bioontology.org/ontology/OMIM/MTHU007185

http://purl.bioontology.org/ontology/OMIM/MTHU001237

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU004117

http://purl.bioontology.org/ontology/OMIM/MTHU012931

http://purl.bioontology.org/ontology/OMIM/MTHU001349

http://purl.bioontology.org/ontology/OMIM/MTHU012925

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU012921

http://purl.bioontology.org/ontology/OMIM/MTHU012926

http://purl.bioontology.org/ontology/OMIM/MTHU011768

http://purl.bioontology.org/ontology/OMIM/MTHU011787

http://purl.bioontology.org/ontology/OMIM/MTHU006836

http://purl.bioontology.org/ontology/OMIM/MTHU012923

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU012929

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU012933

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU012934

http://purl.bioontology.org/ontology/OMIM/MTHU012936

http://purl.bioontology.org/ontology/OMIM/MTHU012930

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU012932

http://purl.bioontology.org/ontology/OMIM/MTHU012935

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

230000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FUCOSIDOSIS
Scope Statement

Two types - severe infantile form (type I) and milder form (type II) [MISCELLANEOUS]

Majority of patients from Italy and Southwestern United States [MISCELLANEOUS]

Caused by mutation in the alpha-L-fucosidase gene (FUCA1, 612280.0001) [MOLECULAR BASIS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000001296 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/C31y1 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/64716005 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-72300 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/64716005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E77.1 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1849-8519 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D005645 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D005645 MESH CUI
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 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://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