Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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/MTHU005213

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU028010

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU012940

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU012941

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

230000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FUCOSIDOSIS
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E77.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.obolibrary.org/obo/DOID_14500 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D005645 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D005645 Medical Subject Headings LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61274 National Cancer Institute Thesaurus LOOM