Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

GALACTOSIDASE, ALPHA
Synonyms

ALPHA-GALACTOSIDASE A
ID

http://purl.bioontology.org/ontology/OMIM/300644
altLabel

ALPHA-GALACTOSIDASE A

GALA

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

FABRY DISEASE

GLA

FABRY DISEASE, CARDIAC VARIANT
cui

C4015968

C1439334

C0002986

C1970820
Gene Locus

Xq22
Gene Symbol

GLA
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300644.0053

http://purl.bioontology.org/ontology/OMIM/300644.0040

http://purl.bioontology.org/ontology/OMIM/300644.0020

http://purl.bioontology.org/ontology/OMIM/300644.0061

http://purl.bioontology.org/ontology/OMIM/300644.0060

http://purl.bioontology.org/ontology/OMIM/300644.0001

http://purl.bioontology.org/ontology/OMIM/300644.0033

http://purl.bioontology.org/ontology/OMIM/300644.0013

http://purl.bioontology.org/ontology/OMIM/300644.0052

http://purl.bioontology.org/ontology/OMIM/300644.0054

http://purl.bioontology.org/ontology/OMIM/300644.0014

http://purl.bioontology.org/ontology/OMIM/300644.0045

http://purl.bioontology.org/ontology/OMIM/300644.0027

http://purl.bioontology.org/ontology/OMIM/300644.0007

http://purl.bioontology.org/ontology/OMIM/300644.0041

http://purl.bioontology.org/ontology/OMIM/300644.0021

http://purl.bioontology.org/ontology/OMIM/300644.0008

http://purl.bioontology.org/ontology/OMIM/300644.0006

http://purl.bioontology.org/ontology/OMIM/300644.0002

http://purl.bioontology.org/ontology/OMIM/300644.0059

http://purl.bioontology.org/ontology/OMIM/300644.0058

http://purl.bioontology.org/ontology/OMIM/300644.0015

http://purl.bioontology.org/ontology/OMIM/300644.0034

http://purl.bioontology.org/ontology/OMIM/300644.0032

http://purl.bioontology.org/ontology/OMIM/300644.0019

http://purl.bioontology.org/ontology/OMIM/300644.0035

http://purl.bioontology.org/ontology/OMIM/300644.0048

http://purl.bioontology.org/ontology/OMIM/300644.0046

http://purl.bioontology.org/ontology/OMIM/300644.0028

http://purl.bioontology.org/ontology/OMIM/300644.0026

http://purl.bioontology.org/ontology/OMIM/300644.0047

http://purl.bioontology.org/ontology/OMIM/300644.0039

http://purl.bioontology.org/ontology/OMIM/300644.0050

http://purl.bioontology.org/ontology/OMIM/300644.0023

http://purl.bioontology.org/ontology/OMIM/300644.0003

http://purl.bioontology.org/ontology/OMIM/300644.0057

http://purl.bioontology.org/ontology/OMIM/300644.0055

http://purl.bioontology.org/ontology/OMIM/300644.0031

http://purl.bioontology.org/ontology/OMIM/300644.0011

http://purl.bioontology.org/ontology/OMIM/300644.0030

http://purl.bioontology.org/ontology/OMIM/300644.0051

http://purl.bioontology.org/ontology/OMIM/300644.0010

http://purl.bioontology.org/ontology/OMIM/300644.0012

http://purl.bioontology.org/ontology/OMIM/300644.0042

http://purl.bioontology.org/ontology/OMIM/300644.0044

http://purl.bioontology.org/ontology/OMIM/300644.0043

http://purl.bioontology.org/ontology/OMIM/300644.0022

http://purl.bioontology.org/ontology/OMIM/300644.0024

http://purl.bioontology.org/ontology/OMIM/300644.0004

http://purl.bioontology.org/ontology/OMIM/300644.0062

http://purl.bioontology.org/ontology/OMIM/300644.0025

http://purl.bioontology.org/ontology/OMIM/300644.0005

http://purl.bioontology.org/ontology/OMIM/300644.0037

http://purl.bioontology.org/ontology/OMIM/300644.0017

http://purl.bioontology.org/ontology/OMIM/300644.0056

http://purl.bioontology.org/ontology/OMIM/300644.0038

http://purl.bioontology.org/ontology/OMIM/300644.0036

http://purl.bioontology.org/ontology/OMIM/300644.0016

http://purl.bioontology.org/ontology/OMIM/300644.0018

http://purl.bioontology.org/ontology/OMIM/300644.0049

http://purl.bioontology.org/ontology/OMIM/300644.0029

http://purl.bioontology.org/ontology/OMIM/300644.0009
MIMTYPEMEANING

Gene with known sequence
notation

300644
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

GALACTOSIDASE, ALPHA
tui

T028

T033

T047
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http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes CUI
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/MESH/D000795 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP31872-2 Logical Observation Identifier Names and Codes CUI
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