Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

FABRY DISEASE
Synonyms

HEREDITARY DYSTOPIC LIPIDOSIS
ID

http://purl.bioontology.org/ontology/OMIM/301500
altLabel

HEREDITARY DYSTOPIC LIPIDOSIS

CERAMIDE TRIHEXOSIDASE DEFICIENCY

ALPHA-GALACTOSIDASE A DEFICIENCY

ANGIOKERATOMA CORPORIS DIFFUSUM

FABRY DISEASE, CARDIAC VARIANT

GLA DEFICIENCY

ANDERSON-FABRY DISEASE
cui

C0002986

C1970820
Gene Locus

Xq22
Gene Symbol

GLA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU025543

http://purl.bioontology.org/ontology/OMIM/MTHU025535

http://purl.bioontology.org/ontology/OMIM/MTHU025533

http://purl.bioontology.org/ontology/OMIM/MTHU001042

http://purl.bioontology.org/ontology/OMIM/MTHU008099

http://purl.bioontology.org/ontology/OMIM/MTHU008091

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU008097

http://purl.bioontology.org/ontology/OMIM/MTHU028856

http://purl.bioontology.org/ontology/OMIM/MTHU008085

http://purl.bioontology.org/ontology/OMIM/MTHU008107

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU008101

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

http://purl.bioontology.org/ontology/OMIM/MTHU025529

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU025528

http://purl.bioontology.org/ontology/OMIM/MTHU025536

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU025534

http://purl.bioontology.org/ontology/OMIM/MTHU025538

http://purl.bioontology.org/ontology/OMIM/MTHU025532

http://purl.bioontology.org/ontology/OMIM/MTHU008090

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU008096

http://purl.bioontology.org/ontology/OMIM/MTHU008084

http://purl.bioontology.org/ontology/OMIM/MTHU008088

http://purl.bioontology.org/ontology/OMIM/MTHU008082

http://purl.bioontology.org/ontology/OMIM/MTHU002773

http://purl.bioontology.org/ontology/OMIM/MTHU008086

http://purl.bioontology.org/ontology/OMIM/MTHU008100

http://purl.bioontology.org/ontology/OMIM/MTHU008106

http://purl.bioontology.org/ontology/OMIM/MTHU002455

http://purl.bioontology.org/ontology/OMIM/MTHU025542

http://purl.bioontology.org/ontology/OMIM/MTHU008098

http://purl.bioontology.org/ontology/OMIM/MTHU025530

http://purl.bioontology.org/ontology/OMIM/MTHU028855

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU008104

http://purl.bioontology.org/ontology/OMIM/MTHU008102

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

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU025537

http://purl.bioontology.org/ontology/OMIM/MTHU025531

http://purl.bioontology.org/ontology/OMIM/MTHU008087
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

301500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FABRY DISEASE
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14499 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.01 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.21 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D000795 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D000795 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C567062 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 National Cancer Institute Thesaurus LOOM